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Article: Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children

TitleMandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children
Authors
Yu, KPTLuk, HMGordon, CTFung, GOufadem, MGarcia-Barcelo, MMAmiel, JChung, BHYLo, FMITan, TY
Keywordselongation factor Tu GTP-binding domain containing 2
facial dysostosis
mandibulofacial dysostosis type Guion-Almeida
mandibulofacial dysostosis with microcephaly
Issue Date2018
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.lww.com/product/?0962-8827
Citation
Clinical Dysmorphology, 2018, v. 27, p. 31-35 How to Cite?
DOI: http://dx.doi.org/10.1097/MCD.0000000000000214
Persistent Identifierhttp://hdl.handle.net/10722/252709
ISSN
0962-8827
2023 Impact Factor: 0.4
2023 SCImago Journal Rankings: 0.186
ISI Accession Number ID
WOS:000428709400002

 

DC FieldValueLanguage
dc.contributor.authorYu, KPT-
dc.contributor.authorLuk, HM-
dc.contributor.authorGordon, CT-
dc.contributor.authorFung, G-
dc.contributor.authorOufadem, M-
dc.contributor.authorGarcia-Barcelo, MM-
dc.contributor.authorAmiel, J-
dc.contributor.authorChung, BHY-
dc.contributor.authorLo, FMI-
dc.contributor.authorTan, TY-
dc.date.accessioned2018-05-02T02:52:53Z-
dc.date.available2018-05-02T02:52:53Z-
dc.date.issued2018-
dc.identifier.citationClinical Dysmorphology, 2018, v. 27, p. 31-35-
dc.identifier.issn0962-8827-
dc.identifier.urihttp://hdl.handle.net/10722/252709-
dc.languageeng-
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.lww.com/product/?0962-8827-
dc.relation.ispartofClinical Dysmorphology-
dc.rightsThis is a non-final version of an article published in final form in (provide complete journal citation)-
dc.subjectelongation factor Tu GTP-binding domain containing 2-
dc.subjectfacial dysostosis-
dc.subjectmandibulofacial dysostosis type Guion-Almeida-
dc.subjectmandibulofacial dysostosis with microcephaly-
dc.titleMandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children-
dc.typeArticle-
dc.identifier.emailLuk, HM: lukhm@hku.hk-
dc.identifier.emailGarcia-Barcelo, MM: mmgarcia@hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.emailTan, TY: tanty@hku.hk-
dc.identifier.authorityGarcia-Barcelo, MM=rp00445-
dc.identifier.authorityChung, BHY=rp00473-
dc.identifier.authorityTan, TY=rp01380-
dc.identifier.doi10.1097/MCD.0000000000000214-
dc.identifier.scopuseid_2-s2.0-85044572991-
dc.identifier.hkuros284954-
dc.identifier.volume27-
dc.identifier.spage31-
dc.identifier.epage35-
dc.identifier.isiWOS:000428709400002-
dc.publisher.placeUnited States-
dc.identifier.issnl0962-8827-

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