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PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy.

Authors :
Voet J
Ceulemans B
Kooy F
Meuwissen MEC
Source :
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Mar; Vol. 182 (3), pp. 591-594. Date of Electronic Publication: 2019 Dec 20.
Publication Year :
2020

Subjects

Subjects :
Haploinsufficiency
Humans
Mutation, Missense
RNA-Binding Proteins genetics
Syndrome
Epilepsy
Nervous System Malformations

Details

Language :
English
ISSN :
1552-4833
Volume :
182
Issue :
3
Database :
MEDLINE
Journal :
American journal of medical genetics. Part A
Publication Type :
Editorial & Opinion
Accession number :
31859446
Full Text :
https://doi.org/10.1002/ajmg.a.61463
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