Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript

Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript

BackgroundAutosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disorder characterized primarily by congenital microcephaly and intellectual disability but without extra-central nervous system malformations. This investigation aimed to elucidate the genetic underpinnings of mi...

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Bibliographic Details
Main Authors: Haizhu Chen, Ying Zheng, Hua Wu, Naiqing Cai, Guorong Xu, Yi Lin, Jin-Jing Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-03-01
Series:Frontiers in Neurology
Subjects:
microcephaly
autosomal recessive primary microcephaly type 2
WDR62 mutation
epilepsy
consanguineous marriage
brain malformation
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2024.1341864/full

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https://www.frontiersin.org/articles/10.3389/fneur.2024.1341864/full

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