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Conference Paper: Two Chinese patients with Loeys-Dietz Syndrome due to TGFBR2 mutations
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TitleTwo Chinese patients with Loeys-Dietz Syndrome due to TGFBR2 mutations
 
AuthorsChung, BHY
Chan, SY
Chow, PC
Wong, KT
Lun, KS
Chau, KT
Lau, YL
 
Issue Date2011
 
PublisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp
 
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. 217 [How to Cite?]
 
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 ...
 
DescriptionPoster Presentation (Doctor’s Session)
This journal issue contain Proceedings of the Congress
 
ISSN1013-9923
2013 Impact Factor: 0.106
2013 SCImago Journal Rankings: 0.126
 
DC FieldValue
dc.contributor.authorChung, BHY
 
dc.contributor.authorChan, SY
 
dc.contributor.authorChow, PC
 
dc.contributor.authorWong, KT
 
dc.contributor.authorLun, KS
 
dc.contributor.authorChau, KT
 
dc.contributor.authorLau, YL
 
dc.date.accessioned2011-06-17T09:27:57Z
 
dc.date.available2011-06-17T09:27:57Z
 
dc.date.issued2011
 
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.description.naturepostprint
 
dc.descriptionPoster Presentation (Doctor’s Session)
 
dc.descriptionThis journal issue contain Proceedings of the Congress
 
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. 217 [How to Cite?]
 
dc.identifier.epage217
 
dc.identifier.hkuros185913
 
dc.identifier.hkuros189721
 
dc.identifier.issn1013-9923
2013 Impact Factor: 0.106
2013 SCImago Journal Rankings: 0.126
 
dc.identifier.issue3
 
dc.identifier.spage217
 
dc.identifier.urihttp://hdl.handle.net/10722/134538
 
dc.identifier.volume16
 
dc.languageeng
 
dc.publisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp
 
dc.publisher.placeHong Kong
 
dc.relation.ispartofHong Kong Journal of Paediatrics (New series)
 
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License
 
dc.titleTwo Chinese patients with Loeys-Dietz Syndrome due to TGFBR2 mutations
 
dc.typeConference_Paper
 
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