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

Abstract 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 syndro...

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Egile Nagusiak:	Kit San Yeung, Winnie Wan Yee Tso, Janice Jing Kun Ip, Christopher Chun Yu Mak, Gordon Ka Chun Leung, Mandy Ho Yin Tsang, Dingge Ying, Steven Lim Cho Pei, So Lun Lee, Wanling Yang, Brian Hon-Yin Chung
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	BMC 2017-12-01
Saila:	Molecular Autism
Gaiak:	Somatic mosaicism Macrocephaly Megalencephaly Developmental delay Autism spectrum disorder PTEN
Sarrera elektronikoa:	http://link.springer.com/article/10.1186/s13229-017-0182-4
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