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GENE GUIDE 基因指南

NEXMIF-Related Syndrome

This guide is not meant to take the place of medical advice. Please consult with your doctor about your genetic results and health care choices. This Gene Guide was last updated on 2024. As new information comes to light with new research we will update this page. You may find it helpful to share this guide with friends and family members or doctors and teachers of the person who has NEXMIF-Related Syndrome.
本指南无意取代医疗建议。请咨询您的医生有关您的基因结果和医疗保健选择。本基因指南的最后更新时间为 2024 年。随着新研究发现新信息,我们将更新此页面。您可能会发现与患有此病的人的朋友和家人或医生和老师分享本指南会很有帮助 NEXMIF-Related Syndrome
a doctor sees a patient

NEXMIF-related syndrome is also called intellectual developmental disorder, X-linked 98. For this webpage, we will be using the name NEXMIF-related syndrome to encompass the wide range of variants observed in the people identified.
NEXMIF-related syndrome 也称为智力发育障碍,X连锁98 对于此网页,我们将使用名称 NEXMIF-related syndrome 涵盖在已识别人群中观察到的广泛变异。

NEXMIF-related syndrome happens when there are changes in the NEXMIF gene. These changes can keep the gene from working as it should. The NEXMIF gene was previously called KIAA2022.
NEXMIF-related syndrome 当 NEXMIF 基因发生变化时就会发生。这些变化会使基因无法发挥其应有的作用。 NEXMIF 基因以前称为 KIAA2022。

Key Role  关键角色

The NEXMIF gene plays a key role in brain cell growth.
NEXMIF 基因在脑细胞生长中发挥着关键作用。

Symptoms  症状

Because the NEXMIF gene is important for brain activity, many people who have NEXMIF-related syndrome have:
由于 NEXMIF 基因对大脑活动很重要,因此许多患有 NEXMIF 基因的人 NEXMIF-related syndrome 有:

  • Developmental delay 发育迟缓
  • Intellectual disability 智力障碍
  • Language delay 语言发育迟缓
  • Seizures 癫痫发作
  • Movement issues, such as ataxia or unstable walking
    运动问题,例如共济失调或行走不稳定
  • Autism 自闭症
  • Attention-deficit/hyperactivity disorder (ADHD)
    注意力缺陷/多动障碍(ADHD)
  • Gastroesophageal reflux disease (GERD)
    胃食管反流病(GERD)
  • Smaller than average head size, also called microcephaly
    头部尺寸小于平均尺寸,也称为小头畸形
  • Lower than average muscle tone
    低于平均肌张力

NEXMIF-related syndrome is a genetic condition, which means that it is caused by variants in genes. Our genes contain the instructions, or code, that tell our cells how to grow, develop, and work. Genes are arranged in structures in our cells called chromosomes. Chromosomes and genes usually come in pairs, with one copy from the mother’s egg, and one copy from the father’s sperm. 
NEXMIF-related syndrome 是一种遗传性疾病,这意味着它是由基因变异引起的。我们的基因包含告诉我们的细胞如何生长、发育和工作的指令或代码。基因排列在我们细胞中称为染色体的结构中。染色体和基因通常成对出现,一份来自母亲的卵子,一份来自父亲的精子。

We each have 23 pairs of chromosomes. One pair, called the X and Y chromosomes, differs between biological males and biological females. Biological females have two copies of the X chromosome and all its genes, one inherited from their mother and one inherited from their father. Biological males have one copy of the X chromosome and all its genes, inherited from their mother, and one copy of the Y chromosome and its genes, inherited from their father. 
我们每个人都有 23 对染色体。一对称为 X 和 Y 染色体的生物男性和女性之间存在差异。生物学上的女性有两份 X 染色体及其所有基因,一份遗传自母亲,一份遗传自父亲。生物学上的男性拥有一份从母亲那里继承的 X 染色体及其所有基因,以及一份从父亲那里继承的 Y 染色体及其所有基因

In most cases, parents pass on exact copies of the gene to their child. But the process of making the sperm and egg is not perfect. A variant in the genetic code can lead to physical issues, developmental issues, or both. 
在大多数情况下,父母会将基因的精确副本传递给孩子。但制造精子和卵子的过程并不完美。遗传密码的变异可能导致身体问题、发育问题或两者兼而有之。

The NEXMIF gene is located on the X chromosome, therefore variants in this gene can affect biological males and biological females in different ways. Biological males who have variants in this gene will likely have NEXMIF-related syndrome. 
NEXMIF基因位于 X 染色体上,因此该基因的变异可以以不同的方式影响生物学上的男性和生物学上的女性。具有该基因变异的生物学男性很可能患有 NEXMIF相关综合征。

Biological females who have variants in this gene may or may not have symptoms of NEXMIF-related syndrome. Biological females who have one working copy of the gene and one non-working copy are considered to be ‘carriers’. Even if a biological female does not have signs or symptoms of the syndrome, they can pass it along to their children.
具有该基因变异的生物学女性可能有也可能没有 NEXMIF相关综合征的症状。拥有该基因的一份工作副本和一份非工作副本的生物学女性被认为是“携带者”。即使生物学上的女性没有这种综合症的体征或症状,她们也可以将其遗传给她们的孩子。

X-linked dominant conditions
X连锁显性条件

NEXMIF-related syndrome usually results from a spontaneous variant in the NEXMIF gene in the sperm or egg during development. When a brand new genetic variant happens in the genetic code it is called a ‘de novo’ genetic variant. The child can be the first in the family to have the gene variant. 
NEXMIF-related syndrome 通常是由发育过程中精子或卵子中NEXMIF 基因的自发变异引起的当遗传密码中出现全新的遗传变异时,它被称为“从头”遗传变异。该孩子可能是家庭中第一个携带该基因变异的孩子。

De novo variants can take place in any gene. We all have some de novo variants, most of which don’t affect our health. But because NEXMIF plays a key role in development, de novo variants in this gene can have a meaningful effect. Many parents who have had their genes tested do not have the NEXMIF gene variant found in their child who has the syndrome.
从头变异可以发生在任何基因中。我们都有一些新的变异,其中大多数不会影响我们的健康。但由于 NEXMIF在发育中发挥着关键作用,该基因的从头变异可以产生有意义的影响。许多接受过基因检测的父母在患有该综合征的孩子中并没有发现 NEXMIF 基因变异。

In some cases, NEXMIF-related syndrome is inherited. Biological females who inherit the NEXMIF gene variant tend to have milder symptoms than those who have a de novo variant.
在某些情况下,NEXMIF相关综合征是遗传性的。遗传 NEXMIF基因变异的生物学女性往往比那些携带新生变异的女性症状更轻。

X-Linked Dominant Genetic Syndrome
X连锁显性遗传综合征

Sex chromosomes 性染色体
Non-carrier father 非携带者父亲
Non-carrier mother 非携带者母亲
Sex chromosomes 性染色体
Genetic variant happens in X-chromosome in sperm or egg, or after fertilization
遗传变异发生在精子或卵子的X染色体上,或在受精后
Non-carrier female 非携带者女性
Female child with X-linked genetic condition
患有 X 连锁遗传病的女孩
Male child with X-linked  X连锁男孩
genetic condition 遗传状况
Non-carrier  非承运人
male 男性

Why does my child have a change in the NEXMIF gene?
为什么我的孩子的 NEXMIF 基因发生变化?

No parent causes their child’s NEXMIF-related syndrome. We know this because no parent has any control over the gene changes that they do or do not pass on to their children. Please keep in mind that nothing a parent does before or during the pregnancy causes this to happen. The gene change takes place on its own and cannot be predicted or stopped.
没有父母会导致孩子的 NEXMIF-related syndrome 。我们知道这一点,因为没有父母能够控制他们是否传递给孩子的基因变化。请记住,父母在怀孕前或怀孕期间所做的任何事情都不会导致这种情况发生。基因变化会自行发生,无法预测或阻止。

Each family is different. A geneticist or genetic counselor can give you advice on the chance that this will happen again in your family. 
每个家庭都不同。遗传学家或遗传咨询师可以为您提供有关这种情况在您的家庭中再次发生的可能性的建议。

The risk of having another child who has NEXMIF-related syndrome depends on the genes of both biological parents. 
再生一个患有 NEXMIF 相关综合征的孩子的风险取决于亲生父母的基因。

  • For a biological female parent who does not have the same genetic variant found in their child, the chance of having another child who has the syndrome is on average 1 percent. This 1 percent chance is higher than the chance of the general population. The increased risk is due to the very unlikely chance that more of the mother’s egg cells or the father’s sperm cells carry the same genetic variant. 
    对于在其孩子中没有发现相同遗传变异的亲生母亲来说,生下另一个患有该综合征的孩子的几率平均为1% 。这百分之一的几率比一般人群的几率要高。风险增加是由于更多母亲的卵细胞或父亲的精子细胞携带相同遗传变异的可能性很小。
  • For a biological female parent who has the same NEXMIF variant and is pregnant with a daughter, there is a 50 percent chance of passing on the same genetic variant and a 50 percent chance of passing on the working copy of the gene without the same NEXMIF genetic variant. 
    对于具有相同 NEXMIF变异并怀有女儿的亲生母本,有50% 的机会遗传相同的遗传变异,并且50% 的机会遗传不具有相同 NEXMIF遗传的基因的工作副本变体。
  • If they are pregnant with a son, there is a 50 percent chance of passing on the same genetic variant and the syndrome.  
    如果他们怀的是儿子,则有50% 的机会遗传相同的基因变异和综合症。

For a symptom-free brother or sister of someone who has NEXMIF-related syndrome, the sibling’s risk of having a child who has NEXMIF-related syndrome depends on the sibling’s genes and their parents’ genes. 
对于患有 NEXMIF 相关综合征的人的无症状兄弟姐妹来说,兄弟姐妹生出患有 NEXMIF 相关综合征的孩子的风险取决于兄弟姐妹的基因及其父母的基因。

  • If neither parent has the same genetic variant causing NEXMIF-related syndrome, the symptom-free sibling has a nearly 0 percent chance of having a child who would inherit NEXMIF-related syndrome.
    如果父母双方都不具有导致 NEXMIF 相关综合征的相同遗传变异,则无症状的兄弟姐妹生下继承 NEXMIF相关综合征的孩子的机会几乎为 0%
  • If the biological mother has the same genetic variant causing NEXMIF-related syndrome, the symptom-free daughter has a 50 percent chance of also having the same genetic variant. If the symptom-free daughter has the same genetic variant as their sibling who has the syndrome, the symptom-free sibling’s chance of having a son who has NEXMIF-related syndrome is 50 percent
    如果亲生母亲具有导致 NEXMIF相关综合征的相同遗传变异,则无症状的女儿有50% 的机会也具有相同的遗传变异。如果无症状的女儿与患有该综合征的兄弟姐妹具有相同的遗传变异,则无症状的兄弟姐妹生出患有 NEXMIF相关综合征的儿子的机会为50%

For a person who has NEXMIF-related syndrome, the risk of having a child who has the syndrome is about 50 percent.
对于患有 NEXMIF 相关综合症的人来说,生下患有该综合症的孩子的风险约为50%

As of 2024, about 189 people with NEXMIF-related syndrome have been identified in a medical clinic. The first case of NEXMIF-related syndrome was described in 2014. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
截至 2024 年,医疗诊所已发现约 189 名 NEXMIF 相关综合征患者。第一个案例是 NEXMIF 2014 年描述了与相关的综合症。随着基因检测的普及,科学家们预计会发现更多患有该综合症的人。

People who have NEXMIF-related syndrome may look different. Appearance can vary and can include some but not all of these features:
拥有的人 NEXMIF-related syndrome 可能看起来不同。外观可能有所不同,并且可能包含以下部分但不是全部功能:

  • Smaller than average head size
    小于平均头部尺寸
  • Large ears 大耳朵
  • Low muscle tone face 低肌张力脸
  • Round face shape 圆脸型
  • Lower than average muscle tone
    低于平均肌张力

Scientists and doctors have only just begun to study NEXMIF-related syndrome. At this point, there are no medicines designed to treat the syndrome. A genetic diagnosis can help people decide on the best way to track the condition and manage therapies. Doctors can refer people to specialists for:
科学家和医生才刚刚开始研究 NEXMIF-related syndrome 。目前,还没有专门用于治疗该综合征的药物。基因诊断可以帮助人们决定跟踪病情和管理治疗的最佳方法。医生可以将人们转介给专家:

  • Physical exams and brain studies
    身体检查和大脑研究
  • Genetics consults 遗传学咨询
  • Development and behavior studies
    发展和行为研究
  • Other issues, as needed 其他问题,根据需要

A developmental pediatrician, neurologist, or psychologist can follow progress over time and can help:
发育儿科医生、神经科医生或心理学家可以随着时间的推移跟踪进展情况,并可以帮助:

  • Suggest the right therapies. This can include physical, occupational, speech, or behavioral therapy.
    建议正确的治疗方法。这可以包括物理、职业、言语或行为治疗。
  • Guide individualized education plans (IEPs).
    指导个性化教育计划 (IEP)。

Specialists advise that therapies for NEXMIF-related syndrome should begin as early as possible, ideally before a child begins school.
专家建议 NEXMIF 的治疗 -related syndrome 应尽早开始,最好是在孩子开始上学之前开始。

If seizures happen, consult a neurologist. There are many types of seizures, and not all types are easy to spot. To learn more, you can refer to resources such as the Epilepsy Foundation’s website: epilepsy.com/…t-is-epilepsy/seizure-types
如果发生癫痫发作,请咨询神经科医生。癫痫发作有多种类型,并非所有类型都很容易发现。要了解更多信息,您可以参考癫痫基金会网站等资源: epilepsy.com/…t-is-epilepsy/seizure-types

This section includes a summary of information from major published articles. It highlights how many people have different symptoms. To learn more about the articles, see the Sources and references section of this guide.
本节包括主要已发表文章的信息摘要。它强调了有多少人有不同的症状。要了解有关这些文章的更多信息,请参阅本指南的来源和参考部分。

Females have two X chromosomes and two copies of the NEXMIF gene, whereas males have one X chromosome and one copy of the NEXMIF gene.
女性有两条 X 染色体和两个 NEXMIF 基因拷贝,而男性有一条 X 染色体和一个 NEXMIF 基因拷贝。

Female carriers have slightly different medical features than males. This may be due to what is called X inactivation, which is a random process where a cell chooses one X chromosome to silence gene expression. If the affected X chromosome is inactivated, this means that the NEXMIF variant would be silenced or turned off.
女性携带者的医学特征与男性略有不同。这可能是由于所谓的 X 失活所致,这是一种随机过程,细胞选择一条 X 染色体来沉默基因表达。如果受影响的 X 染色体失活,这意味着 NEXMIF 变体将被沉默或关闭。

For some females, the unaffected X chromosome is inactivated, resulting in a person having more medical features.
对于一些女性来说,未受影响的 X 染色体失活,导致一个人具有更多的医学特征。

Males with NEXMIF-related syndrome 男性有 NEXMIF-related syndrome

Speech and Learning 言语与学习

Males with NEXMIF-related syndrome had developmental delay or intellectual disability and speech issues.
男性有 NEXMIF-related syndrome 有发育迟缓或智力障碍和言语问题。

  • 23 out of 23 people had developmental delay or intellectual disability (100 percent)
    23人中有23人有发育迟缓或智力障碍( 100%
  • 10 out of 12 people had speech issues (83 percent)
    12人中有10人有言语问题( 83%

For males with intellectual disability:
对于有智力障碍的男性:

  • 7 out of 23 people had profound intellectual disability (30 percent)
    23人中有7人有严重的智力障碍( 30%
  • 10 out of 23 people had severe intellectual disability (44 percent)
    23人中有10人有严重的智力障碍( 44%
  • 6 out of 23 people had mild to moderate intellectual disability (26 percent)
    23人中有6人有轻度至中度智力障碍( 26%
30%
7 out of 23 people had profound intellectual disability.
23 人中有 7 人患有严重智力障碍。
44%
10 out of 23 people had severe intellectual disability.
23人中有10人有严重智力障碍。
26%
6 out of 23 people had mild to moderate intellectual disability.
23 人中有 6 人患有轻度至中度智力障碍。

Behavior 行为

Behavioral disorders occurred in males with NEXMIF-related syndrome, including features of autism.
男性出现行为障碍 NEXMIF-related syndrome ,包括自闭症的特征。

  • 19 out of 23 people had behavioral issues (83 percent)
    23人中有19人有行为问题 83%
  • 18 out of 23 people had features of autism (78 percent)
    23人中有18人自闭症特征 78%

Brain 

Many males with NEXMIF-related syndrome had seizures, with an age of onset around 15 months old. But, males had developed seizures as young as 1 month old and as old as 14 years old. The most common seizure types were myoclonic and absence seizures.
许多男性患有 NEXMIF-related syndrome 曾有癫痫发作,发病年龄在15个月左右。但是,男性小至 1 个月大、大至 14 岁时就会出现癫痫发作。最常见的癫痫发作类型是肌阵挛性癫痫发作和失神性癫痫发作。

Most brain imaging showed normal or minor findings. Some people had defects, including regional or generalized brain atrophy.
大多数大脑成像显示正常或轻微的发现。有些人存在缺陷,包括区域性或全身性脑萎缩。

  • 15 out of 23 people had seizures (65 percent)
    23人中有15人癫痫发作( 65%
  • 10 out of 78 people had brain changes on MRI (13 percent)
    78人中有 10 人的MRI 发现大脑发生变化 13 %

Females with NEXMIF-related syndrome 女性有 NEXMIF-related syndrome

Speech and Learning 言语与学习

Females with NEXMIF-related syndrome had developmental delay or intellectual disability and speech issues.
女性有 NEXMIF-related syndrome 有发育迟缓或智力障碍和言语问题。

  • 60 out of 61 people had developmental delay or intellectual disability (98 percent)
    61人中有60人有发育迟缓或智力障碍( 98%
  • 14 out of 52 people had speech issues (27 percent)
    52人中有14人有言语问题( 27%

For females with intellectual disability:
对于有智力障碍的女性:

  • 1 out of 60 people had profound intellectual disability (2 percent)
    每 60人中就有 1 人患有严重智力障碍( 2 %
  • 18 out of 60 people had severe intellectual disability (30 percent)
    60人中有18人有严重的智力障碍( 30%
  • 41 out of 60 people had mild to moderate intellectual disability (68 percent)
    60 人中有 41 人患有轻度至中度智力障碍( 68 %
Human head showing brain outline
2%
1 out of 60 people had profound intellectual disability.
每 60 人中就有 1 人患有严重智力障碍。
30%
18 out of 60 people had severe intellectual disability.
60 人中有 18 人患有严重智力障碍。
68%
41 out of 60 people had mild to moderate intellectual disability.
60 人中有 41 人患有轻度至中度智力障碍。

Behavior 行为

Behavioral disorders occurred in females with NEXMIF-related syndrome, including features of autism.
行为障碍发生在女性身上 NEXMIF-related syndrome ,包括自闭症的特征

  • 41 out of 61 people had behavioral issues (67 percent)
    61 人中有 41人有行为问题 67 %
  • 28 out of 61 people had features of autism (46 percent)
    61人中有28人自闭症特征 46%

Brain 

Most females with NEXMIF-related syndrome had seizures, with an age of onset around 19 months old. But, females had developed seizures as young as 1 month old and as old as 17 years old. The most common seizure types were myoclonic and absence seizures.
大多数女性患有 NEXMIF-related syndrome 曾有癫痫发作,发病年龄在19个月左右。但是,女性小至 1 个月大、大至 17 岁时就会出现癫痫发作。最常见的癫痫发作类型是肌阵挛性癫痫发作和失神性癫痫发作。

Most brain imaging showed  normal or minor findings. Some people had defects, including regional or generalized brain atrophy.
大多数大脑成像显示正常或轻微的发现。有些人存在缺陷,包括区域性或全身性脑萎缩。

  • 56 out of 63 people had seizures (89 percent)
    63人中有56人癫痫发作( 89%
  • 10 out of 78 people had brain changes on MRI (13 percent)
    78 人中有 10 人的MRI 发现大脑发生变化( 13 %

Male and Female Adults 男性和女性成人

About one-half of adults were overweight or obese. Some people had a dysfunction of the hypothalamic–pituitary system, such as hypogonadotropic hypogonadism, central hypothyroidism, precocious puberty, primary amenorrhea, and delayed bone age.
大约一半的成年人超重或肥胖。有些人存在下丘脑-垂体系统功能障碍,如性腺功能低下、中枢性甲状腺功能减退、性早熟、原发性闭经、骨龄延迟等。

  • 11 out of 18 females were overweight or obese (61 percent)
    18 名女性中有 11 名超重或肥胖( 61 %
  • 2 out of 5 males were overweight or obese (40 percent)
    五分之二的男性超重或肥胖( 40%

Where can I find support and resources?
我在哪里可以找到支持和资源?

XLID98 Foundation  XLID98基金会

The goal of the XLID98 Foundation is to support families of individuals affected by XLID98 (also known as KIAA2022/NEXMIF/MRX98) worldwide.
XLID98 基金会的目标是支持全球受 XLID98(也称为 KIAA2022/NEXMIF/MRX98)影响的个人的家庭。

Their hope is to establish a supportive community, educate families, foster collaborations with physicians, scientists and other patient advocacy organizations.  They will also be raising awareness and supporting medical research, helping children diagnosed with this rare condition get the treatment they need to improve their quality of life.
他们希望建立一个支持性社区,教育家庭,促进与医生、科学家和其他患者倡导组织的合作。 他们还将提高人们的认识并支持医学研究,帮助被诊断患有这种罕见疾病的儿童获得改善生活质量所需的治疗。

XLID98 / KIAA2022 / NEXMIF / MRX98 Facebook Group
XLID98 / KIAA2022 / NEXMIF / MRX98 Facebook 群组

Unione Italiana Nexmif 意大利国家联盟

Unione Italiana Nexmif is a volunteer organization dedicated to people diagnosed with mutation in the gene Nexmif, with the dream of a cure.
Unione Italiana Nexmif 是一个志愿者组织,致力于帮助被诊断患有 Nexmif 基因突变的人们,并梦想着治愈这种疾病。

NEXMIF ITALIA odv NEXMIF 意大利 odv

NEXMIF ITALIA odv is an association dedicated to research and support for people affected by rare genetic diseases such as the NEXMIF gene mutation
NEXMIF ITALIA odv 是一个致力于研究和支持受 NEXMIF 基因突变等罕见遗传病影响的人们的协会

Simons Searchlight

Simons Searchlight is an online international research program, building an ever growing natural history database, biorepository, and resource network of over 175 rare genetic neurodevelopmental disorders. By joining their community and sharing your experiences, you contribute to a growing database used by scientists worldwide to advance the understanding of your genetic condition. Through online surveys and optional blood sample collection, they gather valuable information to improve lives and drive scientific progress. Families like yours are the key to making meaningful progress. To register for Simons Searchlight, go to the Simons Searchlight website at www.simonssearchlight.org and click “Join Us.”
Simons Searchlight 是一个在线国际研究项目,致力于建立一个不断增长的自然历史数据库、生物存储库和超过 175 种罕见遗传性神经发育障碍的资源网络。通过加入他们的社区并分享您的经验,您可以为世界各地科学家使用的不断增长的数据库做出贡献,以增进对您的遗传状况的了解。通过在线调查和可选的血液样本采集,他们收集有价值的信息来改善生活并推动科学进步。像您这样的家庭是取得有意义的进步的关键。要注册 Simons Searchlight,请访问 Simons Searchlight 网站 www.simonssearchlight.org,然后单击“加入我们”。

 

Sources and References  来源和参考文献

  • de Lange IM. et al. Journal of Medical Genetics, 53, 850-858, (2016). De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy, www.ncbi.nlm.nih.gov/pmc/articles/PMC5264224.
    德朗格 IM .等人。医学遗传学杂志 53,850-858 ,(2016)。女性中 KIAA2022 的新生突变会导致智力障碍和难治性癫痫, www.ncbi.nlm.nih.gov/ pmc/articles/PMC5264224
  • Stamberger H. et al. Genetics in Medicine, Epub ahead of print, (2020). NEXMIF encephalopathy: An X-linked disorder with male and female phenotypic patterns, www.nature.com/articles/s41436-020-00988-9.
    斯坦伯格H.等人。医学遗传学,印刷前电子版,(2020)。 NEXMIF 脑病:一种具有男性和女性表型模式的 X 连锁疾病, www.nature.com/ articles/s41436-020-00988-9。
  • Stamberger, H., Hammer, T. B., Gardella, E., Vlaskamp, D. R. M., Bertelsen, B., Mandelstam, S., de Lange, I., Zhang, J., Myers, C. T., … & Scheffer, I. E. (2021). NEXMIF encephalopathy: An X-linked disorder with male and female phenotypic patterns. Genetics in Medicine, 23(2), 363-373. https://pubmed.ncbi.nlm.nih.gov/33144681/
    Stamberger, H.、Hammer, TB、Gardella, E.、Vlaskamp, DRM、Bertelsen, B.、Mandelstam, S.、de Lange, I.、Zhang, J.、Myers, CT... & Scheffer, IE (2021 )。 NEXMIF 脑病:一种具有男性和女性表型模式的 X 连锁疾病。医学遗传学,23 (2), 363-373。 https://pubmed.ncbi.nlm.nih.gov/33144681/

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报名参加 Simons Searchlight 通讯。