Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities-Reference-Cited by-同舟云学术

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

Published:2020-05 Issue:5 Volume:106 Page:623-631
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Muir Alison M.,Cohen Jennifer L.,Sheppard Sarah E.,Guttipatti Pavithran,Lo Tsz Y.,Weed Natalie,Doherty Dan,DeMarzo Danielle,Fagerberg Christina R.,Kjærsgaard Lars,Larsen Martin J.,Rump Patrick,Löhner Katharina,Hirsch Yoel,Zeevi David A.,Zackai Elaine H.,Bhoj Elizabeth,Song Yuanquan,Mefford Heather C.

Funder

Roberts Collaborative, CHOP

National Institutes of Health

University of Washington

National Center for Advancing Translational Sciences of the National Institutes of Health

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference31 articles.

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2. Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome;Miyake;Am. J. Hum. Genet.,2015