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Article: Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management

TitleClinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management
Authors
Avila, MDyment, DASagen, JVSt-Onge, JMoog, UChung, BHYMansour, SAlbanese, AGarcia,, SOrtiz Martin, DLopez, AAClaudi, TKönig, RWhite, SMSawyer, SLBernstein, JASlattery, LJobling, RKYoon, GCurry, CJLe Merrer, MLe Luyer, BHéron, DMathieu-Dramard, MBitoun, POdent, SAmiel, JKuentz, PThevenon, JLaville, MReznik, YFagour, CNunes, MLDelesalle, DManouvrier, SLascols, OHuet, FBinquet, CFaivre, LRivière, JBVigouroux, CNjølstad, PRInnes, ACThauvin-Robinet, C
KeywordsDiabetes
Insulin resistance
Intrauterine growth restriction
Lipoatrophy
PIK3R1 gene
Short stature
SHORT syndrome
Issue Date2016
Citation
Clinical Genetics, 2016, v. 89 n. 4, p. 501-506 How to Cite?
DOI: http://dx.doi.org/10.1111/cge.12688
Persistent Identifierhttp://hdl.handle.net/10722/221906
ISI Accession Number ID
WOS:000372289600015

 

DC FieldValueLanguage
dc.contributor.authorAvila, M-
dc.contributor.authorDyment, DA-
dc.contributor.authorSagen, JV-
dc.contributor.authorSt-Onge, J-
dc.contributor.authorMoog, U-
dc.contributor.authorChung, BHY-
dc.contributor.authorMansour, S-
dc.contributor.authorAlbanese, A-
dc.contributor.authorGarcia,, S-
dc.contributor.authorOrtiz Martin, D-
dc.contributor.authorLopez, AA-
dc.contributor.authorClaudi, T-
dc.contributor.authorKönig, R-
dc.contributor.authorWhite, SM-
dc.contributor.authorSawyer, SL-
dc.contributor.authorBernstein, JA-
dc.contributor.authorSlattery, L-
dc.contributor.authorJobling, RK-
dc.contributor.authorYoon, G-
dc.contributor.authorCurry, CJ-
dc.contributor.authorLe Merrer, M-
dc.contributor.authorLe Luyer, B-
dc.contributor.authorHéron, D-
dc.contributor.authorMathieu-Dramard, M-
dc.contributor.authorBitoun, P-
dc.contributor.authorOdent, S-
dc.contributor.authorAmiel, J-
dc.contributor.authorKuentz, P-
dc.contributor.authorThevenon, J-
dc.contributor.authorLaville, M-
dc.contributor.authorReznik, Y-
dc.contributor.authorFagour, C-
dc.contributor.authorNunes, ML-
dc.contributor.authorDelesalle, D-
dc.contributor.authorManouvrier, S-
dc.contributor.authorLascols, O-
dc.contributor.authorHuet, F-
dc.contributor.authorBinquet, C-
dc.contributor.authorFaivre, L-
dc.contributor.authorRivière, JB-
dc.contributor.authorVigouroux, C-
dc.contributor.authorNjølstad, PR-
dc.contributor.authorInnes, AC-
dc.contributor.authorThauvin-Robinet, C-
dc.date.accessioned2015-12-21T05:47:11Z-
dc.date.available2015-12-21T05:47:11Z-
dc.date.issued2016-
dc.identifier.citationClinical Genetics, 2016, v. 89 n. 4, p. 501-506-
dc.identifier.urihttp://hdl.handle.net/10722/221906-
dc.languageeng-
dc.relation.ispartofClinical Genetics-
dc.subjectDiabetes-
dc.subjectInsulin resistance-
dc.subjectIntrauterine growth restriction-
dc.subjectLipoatrophy-
dc.subjectPIK3R1 gene-
dc.subjectShort stature-
dc.subjectSHORT syndrome-
dc.titleClinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management-
dc.typeArticle-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1111/cge.12688-
dc.identifier.scopuseid_2-s2.0-84949591436-
dc.identifier.hkuros256461-
dc.identifier.volume89-
dc.identifier.issue4-
dc.identifier.spage501-
dc.identifier.epage506-
dc.identifier.isiWOS:000372289600015-

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