Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism

San Yeung, Kit; W. Y. Tso, Winnie; Jing Kun Ip, Janice; Chun Yu Mak, Christopher; Leung, Gordon; Ho Yin Tsang, Mandy; Ying, Dingge; Lim Cho Pei, Steven; Lun Lee, So; Yang, Wanling; Hon‐Yin Chung, Brian

doi:10.1186/s13229-017-0182-4

Public

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism

Published in Molecular Autism • Dec 1, 2017

Authors:

Kit San Yeung

Winnie W. Y. Tso

Janice Jing Kun Ip

Abstract

Macrocephaly, which is defined as a head circumference greater than or equal to + 2 standard deviations, is a feature commonly observed in children with developmental delay and/or autism spectrum disorder. Although PTEN is a well-known gene identified in patients with this syndromic presentation, ot...

Subject

Macrocephaly

PTEN

Germline mutation

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