ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination-Reference-Cited by-同舟云学术

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination

Published:2014-09-22 Issue:11 Volume:164 Page:2892-2900
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Shehata Laila¹,Simeonov Dimitre R.¹,Raams Anja²,Wolfe Lynne¹,Vanderver Adeline³⁴,Li Xueli⁵,Huang Yan¹,Garner Shannon⁶,Boerkoel Cornelius F.¹,Thurm Audrey⁷,Herman Gail E.⁶,Tifft Cynthia J.¹³,He Miao⁵,Jaspers Nicolaas G.J.²,Gahl William A.¹³

Affiliation:

1. NIH Undiagnosed Diseases Program, Common Fund; Office of the Director; NIH and National Human Genome Research Institute; NIH; Bethesda Maryland

2. Department of Genetics; Erasmus Medical Center; Rotterdam The Netherlands

3. Medical Genetics Branch; National Human Genome Research Institute; NIH; Bethesda Maryland

4. Childrens National Medical Center; Washington District Columbia

5. Children's Hospital of Philadelphia and University of Pennsylvania; Philadelphia Pennsylvania

6. Nationwide Children's Hospital and The Ohio State University; Columbus Ohio

7. National Institute of Mental Health; NIH; Bethesda Maryland

Funder

Director and the Intramural Research Program of the National Human Genome Research Institute (NIH, Bethesda, Maryland)

Publisher

Wiley