Three Brothers With Autism Carry a Stop‐Gain Mutation in the HPA‐Axis Gene NR3C2-Reference-Cited by-同舟云学术

Three Brothers With Autism Carry a Stop‐Gain Mutation in the HPA‐Axis Gene NR3C2

Published:2020-02-17 Issue:4 Volume:13 Page:523-531
ISSN:1939-3792
Container-title:Autism Research
language:en
Short-container-title:Autism Research

Author:

Cukier Holly N.¹²³^ORCID,Griswold Anthony J.¹³,Hofmann Natalia K.¹,Gomez Lissette¹,Whitehead Patrice L.¹,Abramson Ruth K.⁴,Gilbert John R.¹³,Cuccaro Michael L.¹³^ORCID,Dykxhoorn Derek M.¹³,Pericak‐Vance Margaret A.¹²³

Affiliation:

1. John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami Florida

2. Department of Neurology University of Miami Miller School of Medicine Miami Florida

3. Dr. John T. Macdonald Foundation Department of Human Genetics University of Miami Miller School of Medicine Miami Florida

4. University of South Carolina School of Medicine Columbia South Carolina

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/aur.2269

Reference56 articles.

1. Diagnostic and Statistical Manual of Mental Disorders

2. Neurobiological bases of autism-epilepsy comorbidity: a focus on excitation/inhibition imbalance

3. The Yin and Yang of Autism Genetics: How Rare De Novo and Common Variations Affect Liability

4. De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

5. Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

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