Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene-Reference-Cited by-同舟云学术

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene

Published:2016-01-05 Issue:4 Volume:170 Page:992-998
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Rosti Rasim O.¹,Dikoglu Esra¹,Zaki Maha S.²,Abdel-Salam Ghada²,Makhseed Nawal³,Sese Jordan C.¹,Musaev Damir¹,Rosti Basak¹,Harbert Mary J.⁴,Jones Marilyn C.⁴,Vaux Keith K.⁵,Gleeson Joseph G.¹

Affiliation:

1. Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute; The Rockefeller University; New York City New York

2. Division of Human Genetics and Genome Research, Department of Clinical Genetics; National Research Centre; Cairo Egypt

3. Pediatric Department; Al-Jahra Hospital; Jahra City Kuwait

4. Rady Children's Hospital, Department of Pediatrics, Sharp Mary Birch Hospital; University of California San Diego School of Medicine; San Diego California

5. Division of Medical Genetics, Department of Medicine; University of California San Diego School of Medicine; San Diego California

Funder

National Institutes of Health

Simons Foundation Autism Research Initiative (SFARI)

Howard Hughes Medical Institute

California Institute of Regenerative Medicine

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37533/fullpdf