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Article

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

Molecular autism - 1 Jan 2017

Yeung Kit San, Tso Winnie Wan Yee, Ip Janice Jing Kun, Mak Christopher Chun Yu, Leung Gordon Ka Chun, Tsang Mandy Ho Yin, Ying Dingge, Pei Steven Lim Cho, Lee So Lun, Yang Wanling, Chung Brian Hon-Yin

Abstract excerpt

Background: 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, other genes in the PI3K-AKT-mTOR signalling pathway have also recently been suggested to have important...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Proto-Oncogene Proteins c-akt

Share to PTEN Phosphohydrolase

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Source

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Identifiers

PMID: 29296277
DOI: 10.1186/s13229-017-0182-4
PMCID: PMC5738835

Genes

PTEN
MTOR

Provenance

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