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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

TitleIdentification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism
Authors
Yeung, KSTso, WYWIp, JKJMAK, CCYLeung, KCTSANG, HYYing, DPei, LCSLee, SLYang, WChung, BHY
KeywordsAutism spectrum disorder
Developmental delay
Macrocephaly
Megalencephaly
MTOR
PIK3CA
PPP2R5D
PTEN
Somatic mosaicism
Issue Date2017
PublisherBioMed Central Ltd. The Journal's web site is located at http://www.molecularautism.com
Citation
Molecular Autism, 2017, v. 8, p. 66 How to Cite?
DOI: http://dx.doi.org/10.1186/s13229-017-0182-4
Persistent Identifierhttp://hdl.handle.net/10722/250541
ISSN
2040-2392
2021 Impact Factor: 6.476
2020 SCImago Journal Rankings: 2.638
ISI Accession Number ID
WOS:000418670200001

 

DC FieldValueLanguage
dc.contributor.authorYeung, KS-
dc.contributor.authorTso, WYW-
dc.contributor.authorIp, JKJ-
dc.contributor.authorMAK, CCY-
dc.contributor.authorLeung, KC-
dc.contributor.authorTSANG, HY-
dc.contributor.authorYing, D-
dc.contributor.authorPei, LCS-
dc.contributor.authorLee, SL-
dc.contributor.authorYang, W-
dc.contributor.authorChung, BHY-
dc.date.accessioned2018-01-18T04:28:43Z-
dc.date.available2018-01-18T04:28:43Z-
dc.date.issued2017-
dc.identifier.citationMolecular Autism, 2017, v. 8, p. 66-
dc.identifier.issn2040-2392-
dc.identifier.urihttp://hdl.handle.net/10722/250541-
dc.languageeng-
dc.publisherBioMed Central Ltd. The Journal's web site is located at http://www.molecularautism.com-
dc.relation.ispartofMolecular Autism-
dc.rightsMolecular Autism. Copyright © BioMed Central Ltd.-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectAutism spectrum disorder-
dc.subjectDevelopmental delay-
dc.subjectMacrocephaly-
dc.subjectMegalencephaly-
dc.subjectMTOR-
dc.subjectPIK3CA-
dc.subjectPPP2R5D-
dc.subjectPTEN-
dc.subjectSomatic mosaicism-
dc.titleIdentification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism-
dc.typeArticle-
dc.identifier.emailYeung, KS: ksyyeung@HKUCC-COM.hku.hk-
dc.identifier.emailTso, WYW: wytso@hku.hk-
dc.identifier.emailLeung, KC: gleungkc@hku.hk-
dc.identifier.emailYing, D: jonson@hku.hk-
dc.identifier.emailPei, LCS: slcpei@hku.hk-
dc.identifier.emailLee, SL: slleem@hku.hk-
dc.identifier.emailYang, W: yangwl@hkucc.hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityTso, WYW=rp01517-
dc.identifier.authorityYang, W=rp00524-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1186/s13229-017-0182-4-
dc.identifier.scopuseid_2-s2.0-85038911255-
dc.identifier.hkuros284027-
dc.identifier.volume8-
dc.identifier.spage66-
dc.identifier.epage66-
dc.identifier.isiWOS:000418670200001-
dc.publisher.placeUnited Kingdom-
dc.identifier.issnl2040-2392-

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