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Article: Phenotypic spectrum associated with PTCHD1 deletion and truncating mutations includes intellectual disability and autism spectrum disorder

TitlePhenotypic spectrum associated with PTCHD1 deletion and truncating mutations includes intellectual disability and autism spectrum disorder
Authors
Chaudhry, ANoor, ADegagne, BBaker, KBok, LABrady, AFChitayat, DChung, BHYCytrynbaum, CDyment, DFilges, IHelm, BHutchison, HTJeng, LJBLaumonnier, FMarshall, CRMenzel, MParkash, SParker, MJThe, DDD STUDYRaymond, FLRideout, ALRoberts, WRupps, RSchanze, ISchrander-Stumpel, CTRMSpeevak, MDStavropoulos, DJStevens, SJCThomas, ERAToutain, AVergano, SWeksberg, RScherer, SWVincent, JBCarter, MT
KeywordsAutism spectrum disorder
Intellectual disability
Phenotype
PTCHD1
X-linked
Issue Date2015
Citation
Clinical Genetics, 2015, v. 88 n. 3, p. 224-233 How to Cite?
DOI: http://dx.doi.org/10.1111/cge.12482
Persistent Identifierhttp://hdl.handle.net/10722/203278
ISI Accession Number ID
WOS:000359064800004

 

DC FieldValueLanguage
dc.contributor.authorChaudhry, Aen_US
dc.contributor.authorNoor, Aen_US
dc.contributor.authorDegagne, Ben_US
dc.contributor.authorBaker, Ken_US
dc.contributor.authorBok, LAen_US
dc.contributor.authorBrady, AFen_US
dc.contributor.authorChitayat, Den_US
dc.contributor.authorChung, BHYen_US
dc.contributor.authorCytrynbaum, Cen_US
dc.contributor.authorDyment, Den_US
dc.contributor.authorFilges, Ien_US
dc.contributor.authorHelm, Ben_US
dc.contributor.authorHutchison, HTen_US
dc.contributor.authorJeng, LJBen_US
dc.contributor.authorLaumonnier, Fen_US
dc.contributor.authorMarshall, CRen_US
dc.contributor.authorMenzel, Men_US
dc.contributor.authorParkash, Sen_US
dc.contributor.authorParker, MJen_US
dc.contributor.authorThe, DDD STUDYen_US
dc.contributor.authorRaymond, FLen_US
dc.contributor.authorRideout, ALen_US
dc.contributor.authorRoberts, Wen_US
dc.contributor.authorRupps, Ren_US
dc.contributor.authorSchanze, Ien_US
dc.contributor.authorSchrander-Stumpel, CTRMen_US
dc.contributor.authorSpeevak, MDen_US
dc.contributor.authorStavropoulos, DJen_US
dc.contributor.authorStevens, SJCen_US
dc.contributor.authorThomas, ERAen_US
dc.contributor.authorToutain, Aen_US
dc.contributor.authorVergano, Sen_US
dc.contributor.authorWeksberg, Ren_US
dc.contributor.authorScherer, SWen_US
dc.contributor.authorVincent, JBen_US
dc.contributor.authorCarter, MTen_US
dc.date.accessioned2014-09-19T13:51:21Z-
dc.date.available2014-09-19T13:51:21Z-
dc.date.issued2015-
dc.identifier.citationClinical Genetics, 2015, v. 88 n. 3, p. 224-233en_US
dc.identifier.urihttp://hdl.handle.net/10722/203278-
dc.languageengen_US
dc.relation.ispartofClinical Geneticsen_US
dc.subjectAutism spectrum disorder-
dc.subjectIntellectual disability-
dc.subjectPhenotype-
dc.subjectPTCHD1-
dc.subjectX-linked-
dc.titlePhenotypic spectrum associated with PTCHD1 deletion and truncating mutations includes intellectual disability and autism spectrum disorderen_US
dc.typeArticleen_US
dc.identifier.emailChung, BHY: bhychung@hku.hken_US
dc.identifier.authorityChung, BHY=rp00473en_US
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1111/cge.12482en_US
dc.identifier.scopuseid_2-s2.0-84938962645-
dc.identifier.hkuros237547en_US
dc.identifier.volume88-
dc.identifier.issue3-
dc.identifier.spage224-
dc.identifier.epage233-
dc.identifier.isiWOS:000359064800004-

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