TY  - GEN
AU  - Muir,Alison M
AU  - Cohen,Jennifer L
AU  - Sheppard,Sarah E
AU  - Guttipatti,Pavithran
AU  - Lo,Tsz Y
AU  - Weed,Natalie
AU  - Doherty,Dan
AU  - DeMarzo,Danielle
AU  - Fagerberg,Christina R
AU  - Kjærsgaard,Lars
AU  - Larsen,Martin J
AU  - Rump,Patrick
AU  - Löhner,Katharina
AU  - Hirsch,Yoel
AU  - Zeevi,David A
AU  - Zackai,Elaine H
AU  - Bhoj,Elizabeth
AU  - Song,Yuanquan
AU  - Mefford,Heather C
TI  - Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities
SN  - 1537-6605
PY  - 2020///0727
KW  - Active Transport, Cell Nucleus
KW  - Alleles
KW  - Animals
KW  - Brain
KW  - abnormalities
KW  - Cell Nucleus
KW  - metabolism
KW  - Child, Preschool
KW  - Dendrites
KW  - Drosophila Proteins
KW  - genetics
KW  - Drosophila melanogaster
KW  - Eye Abnormalities
KW  - Female
KW  - Fibroblasts
KW  - Genes, Recessive
KW  - Heart Defects, Congenital
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Jews
KW  - Loss of Function Mutation
KW  - Male
KW  - Nuclear Pore Complex Proteins
KW  - deficiency
KW  - Seizures
KW  - Syndrome
KW  - beta Karyopherins
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2020.03.009
ER  -