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oai:serval.unil.ch:BIB_C9725B978C04
2024-03-23T02:58:33Z
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De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.
10.1038/ejhg.2016.7
000382310600019
26860062
Terrone
G.
author
Voisin
N.
author
Abdullah Alfaiz
A.
author
Cappuccio
G.
author
Vitiello
G.
author
Guex
N.
author
D'Amico
A.
author
James Barkovich
A.
author
Brunetti-Pierri
N.
author
Del Giudice
E.
author
Reymond
A.
author
article
2016-08
European journal of human genetics
1476-5438
1018-4813
journal
24
9
1359-1362
Agenesis of Corpus Callosum/diagnosis
Agenesis of Corpus Callosum/genetics
Child
Humans
Male
Malformations of Cortical Development/diagnosis
Malformations of Cortical Development/genetics
Mutation, Missense
Phenotype
Phosphatidylinositol 3-Kinases/chemistry
Phosphatidylinositol 3-Kinases/genetics
Polymicrogyria/diagnosis
Polymicrogyria/genetics
Syndrome
eng
60_published
true
peer-reviewed
Publication types: Case Reports ; Journal Article
Publication Status: ppublish