MED23-associated intellectual disability in a non-consanguineous family-Reference-Cited by-同舟云学术

MED23-associated intellectual disability in a non-consanguineous family

Published:2015-04-02 Issue:6 Volume:167 Page:1374-1380
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Trehan Aditi¹²,Brady Jacqueline M.¹²,Maduro Valerie¹²,Bone William P.¹²,Huang Yan¹²,Golas Gretchen A.¹²,Kane Megan S.²,Lee Paul R.³,Thurm Audrey⁴,Gropman Andrea L.¹⁵,Paul Scott M.⁶,Vezina Gilbert⁵,Markello Thomas C.²,Gahl William A.¹²,Boerkoel Cornelius F.²,Tifft Cynthia J.¹²

Affiliation:

1. Office of the Clinical Director; NHGRI/NIH; Bethesda Maryland

2. NIH Undiagnosed Diseases Program; NIH Office of Rare Diseases Research and NHGRI; Bethesda Maryland

3. National Institute of Neurological Disorder and Stroke; NIH; Bethesda Maryland

4. Pediatrics and Developmental Neuroscience; NIMH/NIH; Bethesda Maryland

5. George Washington University School of Medicine and Health Sciences; Children's National Medical Center; Washington District of Columbia

6. Rehabilitation Medicine Department; Clinical Center; NIH; Bethesda Maryland

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37047/fullpdf

Reference18 articles.

1. Diagnostic and Statistical Manual of Mental Disorders

2. Complexity in Transcription Control at the Activation Domain-Mediator Interface;Balamotis;Sci Signal,2009

3. MED23 mutation links intellectual disability to dysregulation of immediate early gene expression;Hashimoto;Science,2011

4. The genetic basis of non-syndromic intellectual disability: A review;Kaufman;J Neurodev Disord,2010a

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