Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism-Reference-Cited by-同舟云学术

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

Published:2017-12 Issue:1 Volume:8 Page:
ISSN:2040-2392
Container-title:Molecular Autism
language:en
Short-container-title:Molecular Autism

Author:

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^ORCID

Funder

SK Yee Medical Research Fund

The Society for the Relief of Disabled Children

HKU Seed Funding for Basic Research

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Developmental Biology,Developmental Neuroscience,Molecular Biology

Link

http://link.springer.com/content/pdf/10.1186/s13229-017-0182-4.pdf

Reference58 articles.

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3. Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics. 2004;113(5):e472–86.

4. Vorstman JAS, Parr JR, Moreno-De-Luca D, RJL A, Nurnberger JI Jr, Hallmayer JF. Autism genetics: opportunities and challenges for clinical translation. Nat Rev Genet. 2017;18(6):362–76.

5. Williams G, King J, Cunningham M, Stephan M, Kerr B, Hersh JH. Fetal valproate syndrome and autism: additional evidence of an association. Dev Med Child Neurol. 2001;43(3):202–6.

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