The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review

The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review

Microdeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a va...

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Main Authors: Fátima Lopes, Fátima Torres, Gabriela Soares, Clara D. van Karnebeek, Cecília Martins, Diana Antunes, João Silva, Lauren Muttucomaroe, Luís Filipe Botelho, Susana Sousa, Paula Rendeiro, Purificação Tavares, Hilde Van Esch, Evica Rajcan-Separovic, Patrícia Maciel
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-02-01
Series:Frontiers in Genetics
Subjects:
1q43-q44 CNVs
AKT3
microcephaly
macrocephaly
ZBTB18
SDCCAG8
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00058/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.00058/full

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