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Conference Paper: Two Chinese patients with Loeys-Dietz Syndrome due to TGFBR2 mutations

TitleTwo Chinese patients with Loeys-Dietz Syndrome due to TGFBR2 mutations
Authors
Issue Date2011
PublisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp
Citation
The 2011 Joint Scientific Meeting of the Hong Kong Paediatric Society and American Academy of Pediatrics in conjunction with Hong Kong Paediatric Nurses Association, Hong Kong, 4-5 June 2011. In Hong Kong Journal of Paediatrics, 2011, v. 16 n. 3, p. 217 How to Cite?
Abstract
BACKGROUND: We previously reported 6 patients with Marfan-like phenotype due to transforming growth factor b-receptor 2 (TGFBR2) mutations (Am J Med Genet Part A 149A:1452-1459). Loeys-Dietz syndrome (LDS) is a recently described autosomal dominant connective tissue disorder characterized by facial dysmorphism, cleft palate, aortic dilatation, blood vessel tortuosity and a high risk of aortic dissection. It is caused by mutations in the TGFBR1 and 2 genes. Two of the 6 patients reported in 2009 were re-assessed and confirmed to have phenotypic features of ...
DescriptionPoster Presentation (Doctor’s Session)
Persistent Identifierhttp://hdl.handle.net/10722/134538
ISSN
2013 Impact Factor: 0.106
2013 SCImago Journal Rankings: 0.126

 

DC FieldValueLanguage
dc.contributor.authorChung, BHYen_US
dc.contributor.authorChan, SYen_US
dc.contributor.authorChow, PCen_US
dc.contributor.authorWong, KTen_US
dc.contributor.authorLun, KSen_US
dc.contributor.authorChau, KTen_US
dc.contributor.authorLau, YLen_US
dc.date.accessioned2011-06-17T09:27:57Z-
dc.date.available2011-06-17T09:27:57Z-
dc.date.issued2011en_US
dc.identifier.citationThe 2011 Joint Scientific Meeting of the Hong Kong Paediatric Society and American Academy of Pediatrics in conjunction with Hong Kong Paediatric Nurses Association, Hong Kong, 4-5 June 2011. In Hong Kong Journal of Paediatrics, 2011, v. 16 n. 3, p. 217en_US
dc.identifier.issn1013-9923-
dc.identifier.urihttp://hdl.handle.net/10722/134538-
dc.descriptionPoster Presentation (Doctor’s Session)-
dc.descriptionThis journal issue contain Proceedings of the Congress-
dc.description.abstractBACKGROUND: We previously reported 6 patients with Marfan-like phenotype due to transforming growth factor b-receptor 2 (TGFBR2) mutations (Am J Med Genet Part A 149A:1452-1459). Loeys-Dietz syndrome (LDS) is a recently described autosomal dominant connective tissue disorder characterized by facial dysmorphism, cleft palate, aortic dilatation, blood vessel tortuosity and a high risk of aortic dissection. It is caused by mutations in the TGFBR1 and 2 genes. Two of the 6 patients reported in 2009 were re-assessed and confirmed to have phenotypic features of ...-
dc.languageengen_US
dc.publisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp-
dc.relation.ispartofHong Kong Journal of Paediatrics (New series)en_US
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.titleTwo Chinese patients with Loeys-Dietz Syndrome due to TGFBR2 mutationsen_US
dc.typeConference_Paperen_US
dc.identifier.emailChung, BHY: bhychung@hku.hken_US
dc.identifier.emailChan, SY: shuyan@hku.hken_US
dc.identifier.emailWong, KT: ktwong07@hkucc.hku.hken_US
dc.identifier.emailLun, KS: lunks@hkucc.hku.hken_US
dc.identifier.emailChau, KT: aktchau@hku.hken_US
dc.identifier.emailLau, YL: lauylung@hku.hken_US
dc.identifier.authorityChung, BHY=rp00473en_US
dc.identifier.authorityLau, YL=rp00361en_US
dc.description.naturepostprint-
dc.identifier.hkuros185913en_US
dc.identifier.hkuros189721-
dc.identifier.volume16-
dc.identifier.issue3-
dc.identifier.spage217-
dc.identifier.epage217-
dc.publisher.placeHong Kong-

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