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

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 pres...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5738835/
https://www.ncbi.nlm.nih.gov/pubmed/29296277
http://dx.doi.org/10.1186/s13229-017-0182-4

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