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Article: Thanatophoric dysplasia variant, San Diego type in a Chinese fetus, caused by C746G missense mutation in FGFR3 gene

TitleThanatophoric dysplasia variant, San Diego type in a Chinese fetus, caused by C746G missense mutation in FGFR3 gene
Authors
Lam, ACFTong, TMFTang, MHYLo, SLee, CPLau, ELam, STS
KeywordsFgfr3 Gene
Platyspondyly Lethal Skeletal Dysplasia
San Diego Type
Thanatophoric Dysplasia
Issue Date2006
PublisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp
Citation
Hong Kong Journal Of Paediatrics, 2006, v. 11 n. 4, p. 331-334+349 How to Cite?
AbstractThanatophoric dysplasia variant - San Diego type (TD-SD) is a variant of thanatophoric dysplasia (TD), sharing with TD subtype TD1, common mutations in the FGFR3 gene. We describe the first local case of TD-SD with missense mutation C746G in FGFR3 gene. Radiologically, major features consist of macrocephaly, wafer thin vertebral bodies, and metaphyseal flaring of tubular bones that differentiate from other types of thanatophoric dysplasia.
Persistent Identifierhttp://hdl.handle.net/10722/180683
ISSN
1013-9923
2023 Impact Factor: 0.1
2023 SCImago Journal Rankings: 0.117
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorLam, ACFen_US
dc.contributor.authorTong, TMFen_US
dc.contributor.authorTang, MHYen_US
dc.contributor.authorLo, Sen_US
dc.contributor.authorLee, CPen_US
dc.contributor.authorLau, Een_US
dc.contributor.authorLam, STSen_US
dc.date.accessioned2013-01-28T01:41:05Z-
dc.date.available2013-01-28T01:41:05Z-
dc.date.issued2006en_US
dc.identifier.citationHong Kong Journal Of Paediatrics, 2006, v. 11 n. 4, p. 331-334+349en_US
dc.identifier.issn1013-9923en_US
dc.identifier.urihttp://hdl.handle.net/10722/180683-
dc.description.abstractThanatophoric dysplasia variant - San Diego type (TD-SD) is a variant of thanatophoric dysplasia (TD), sharing with TD subtype TD1, common mutations in the FGFR3 gene. We describe the first local case of TD-SD with missense mutation C746G in FGFR3 gene. Radiologically, major features consist of macrocephaly, wafer thin vertebral bodies, and metaphyseal flaring of tubular bones that differentiate from other types of thanatophoric dysplasia.en_US
dc.languageengen_US
dc.publisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.aspen_US
dc.relation.ispartofHong Kong Journal of Paediatricsen_US
dc.subjectFgfr3 Geneen_US
dc.subjectPlatyspondyly Lethal Skeletal Dysplasiaen_US
dc.subjectSan Diego Typeen_US
dc.subjectThanatophoric Dysplasiaen_US
dc.titleThanatophoric dysplasia variant, San Diego type in a Chinese fetus, caused by C746G missense mutation in FGFR3 geneen_US
dc.typeArticleen_US
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hken_US
dc.identifier.authorityTang, MHY=rp01701en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.scopuseid_2-s2.0-33750594984en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33750594984&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume11en_US
dc.identifier.issue4en_US
dc.identifier.spage331en_US
dc.identifier.epage334+349en_US
dc.publisher.placeHong Kongen_US
dc.identifier.scopusauthoridLam, ACF=12782043600en_US
dc.identifier.scopusauthoridTong, TMF=8648362100en_US
dc.identifier.scopusauthoridTang, MHY=8943401300en_US
dc.identifier.scopusauthoridLo, S=15073293500en_US
dc.identifier.scopusauthoridLee, CP=7410141601en_US
dc.identifier.scopusauthoridLau, E=36006491400en_US
dc.identifier.scopusauthoridLam, STS=7402279428en_US
dc.identifier.issnl1013-9923-

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