A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: A neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload-Reference-Cited by-同舟云学术

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: A neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload

Published:2013-11-20 Issue:1 Volume:164 Page:17-28
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Swoboda Kathryn J.¹,Margraf Rebecca L.²,Carey John C.³⁴,Zhou Holly⁵,Newcomb Tara M.¹,Coonrod Emily²,Durtschi Jacob²,Mallempati Kalyan²,Kumanovics Attila²⁵,Katz Ben E.⁶,Voelkerding Karl V.²⁵,Opitz John M.³⁴⁵⁷

Affiliation:

1. Pediatric Motor Disorders Research Program; Department of Neurology; University of Utah School of Medicine; Salt Lake City Utah

2. ARUP Institute for Clinical and Experimental Pathology®, ARUP Laboratories; Salt Lake City Utah

3. Department of Obstetrics and Gynecology; University of Utah School of Medicine; Salt Lake City Utah

4. Department of Pediatrics, Division of Medical Genetics; University of Utah School of Medicine; Salt Lake City Utah

5. Department of Pathology; University of Utah School of Medicine; Salt Lake City Utah

6. Private Practice of Pediatrics and Pediatric Neurology; Twin Falls Idaho

7. Department of Human Genetics; University of Utah School of Medicine; Salt Lake City Utah

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference26 articles.

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