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Conference Paper: Two Chinese patients with Loeys-Dietz Syndrome due to TGFBR2 mutations
Title | Two Chinese patients with Loeys-Dietz Syndrome due to TGFBR2 mutations |
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Authors | |
Issue Date | 2011 |
Publisher | Medcom 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 (HKPNA), 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 ... |
Description | Poster Presentation (Doctor’s Session) This journal issue contain Proceedings of the Congress |
Persistent Identifier | http://hdl.handle.net/10722/134538 |
ISSN | 2023 Impact Factor: 0.1 2023 SCImago Journal Rankings: 0.117 |
DC Field | Value | Language |
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dc.contributor.author | Chung, BHY | en_US |
dc.contributor.author | Chan, SY | en_US |
dc.contributor.author | Chow, PC | en_US |
dc.contributor.author | Wong, KT | en_US |
dc.contributor.author | Lun, KS | en_US |
dc.contributor.author | Chau, KT | en_US |
dc.contributor.author | Lau, YL | en_US |
dc.date.accessioned | 2011-06-17T09:27:57Z | - |
dc.date.available | 2011-06-17T09:27:57Z | - |
dc.date.issued | 2011 | en_US |
dc.identifier.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 (HKPNA), Hong Kong, 4-5 June 2011. In Hong Kong Journal of Paediatrics, 2011, v. 16 n. 3, p. 217 | en_US |
dc.identifier.issn | 1013-9923 | - |
dc.identifier.uri | http://hdl.handle.net/10722/134538 | - |
dc.description | Poster Presentation (Doctor’s Session) | - |
dc.description | This journal issue contain Proceedings of the Congress | - |
dc.description.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 ... | - |
dc.language | eng | en_US |
dc.publisher | Medcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp | - |
dc.relation.ispartof | Hong Kong Journal of Paediatrics (New series) | en_US |
dc.title | Two Chinese patients with Loeys-Dietz Syndrome due to TGFBR2 mutations | en_US |
dc.type | Conference_Paper | en_US |
dc.identifier.email | Chung, BHY: bhychung@hku.hk | en_US |
dc.identifier.email | Chan, SY: shuyan@hku.hk | en_US |
dc.identifier.email | Wong, KT: ktwong07@hkucc.hku.hk | en_US |
dc.identifier.email | Lun, KS: lunks@hkucc.hku.hk | en_US |
dc.identifier.email | Chau, KT: aktchau@hku.hk | en_US |
dc.identifier.email | Lau, YL: lauylung@hku.hk | en_US |
dc.identifier.authority | Chung, BHY=rp00473 | en_US |
dc.identifier.authority | Lau, YL=rp00361 | en_US |
dc.description.nature | postprint | - |
dc.identifier.hkuros | 185913 | en_US |
dc.identifier.hkuros | 189721 | - |
dc.identifier.volume | 16 | - |
dc.identifier.issue | 3 | - |
dc.identifier.spage | 217 | - |
dc.identifier.epage | 217 | - |
dc.publisher.place | Hong Kong | - |
dc.identifier.issnl | 1013-9923 | - |