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

Published 2020 View Full Article

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Title
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities
Authors
Keywords
nucleoporin, NUP188, dendritic arborization, negative geotaxis, nuclear pore complex, Ashkenazi Jewish, congenital cataracts, microcephaly, congenital heart defects, autosomal recessive
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 106, Issue 5, Pages 623-631
Publisher
Elsevier BV
Online
2020-04-09
DOI
10.1016/j.ajhg.2020.03.009

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