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Conference Paper: Exome sequencing of a Chinese patient cohort with ID/ASD and macrocephaly/megalencephaly: Identification of a patient with biallelic PTEN mutations and others with germline/ post-zygotic mutations in PIK3C-AKT-mTOR pathway

TitleExome sequencing of a Chinese patient cohort with ID/ASD and macrocephaly/megalencephaly: Identification of a patient with biallelic PTEN mutations and others with germline/ post-zygotic mutations in PIK3C-AKT-mTOR pathway
Authors
Chung, BHYYeung, KSTso, WYWYing, DIp, JKJChu, WYLeung, KCMak, CCY
Issue Date2016
Citation
The 17th Manchester Dysmorphology Conference, Manchester, UK., 7-10 November 2016. How to Cite?
Persistent Identifierhttp://hdl.handle.net/10722/236454

 

DC FieldValueLanguage
dc.contributor.authorChung, BHY-
dc.contributor.authorYeung, KS-
dc.contributor.authorTso, WYW-
dc.contributor.authorYing, D-
dc.contributor.authorIp, JKJ-
dc.contributor.authorChu, WY-
dc.contributor.authorLeung, KC-
dc.contributor.authorMak, CCY-
dc.date.accessioned2016-11-25T00:53:37Z-
dc.date.available2016-11-25T00:53:37Z-
dc.date.issued2016-
dc.identifier.citationThe 17th Manchester Dysmorphology Conference, Manchester, UK., 7-10 November 2016.-
dc.identifier.urihttp://hdl.handle.net/10722/236454-
dc.languageeng-
dc.relation.ispartof17th Manchester Dysmorphology Conference-
dc.titleExome sequencing of a Chinese patient cohort with ID/ASD and macrocephaly/megalencephaly: Identification of a patient with biallelic PTEN mutations and others with germline/ post-zygotic mutations in PIK3C-AKT-mTOR pathway-
dc.typeConference_Paper-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.emailTso, WYW: wytso@hku.hk-
dc.identifier.emailYing, D: jonson@hku.hk-
dc.identifier.emailChu, WY: chuwyy@hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.identifier.authorityTso, WYW=rp01517-
dc.identifier.hkuros270655-

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