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Conference Paper: Identification of 22q11.2 deletion in patients from adult congenital heart disease clinic - a missed burden in the transition care
Title | Identification of 22q11.2 deletion in patients from adult congenital heart disease clinic - a missed burden in the transition care |
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Authors | |
Keywords | 22q11.2 deletion Congenital heart disease Adult |
Issue Date | 2013 |
Publisher | Nature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg |
Citation | The 2013 European Human Genetics Conference (ESHG 2013), Paris, France, 8-11 June 2013.In European Journal of Human Genetics, 2013, v. 21 suppl. 2, p. 134, abstract no. P04.15 How to Cite? |
Abstract | 22q11.2 deletion syndrome (22q11DS) is a common genetic diagnosis in patients with congenital heart disease (CHD). It is multi-systemic with both congenital and later-onset features with lifelong consequences. Variable clinical expression and limited awareness contribute to its under-diagnosis. With low childhood mortality, there is an increasing number of diagnosed/undiagnosed adults, posi... |
Description | Session G - Internal organs and endocrinology (heart, kidney, liver, gastrointestinal) - Poster Session P04-S: no. P04.15 |
Persistent Identifier | http://hdl.handle.net/10722/185075 |
ISSN | 2023 Impact Factor: 3.7 2023 SCImago Journal Rankings: 1.538 |
DC Field | Value | Language |
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dc.contributor.author | Chung, B | en_US |
dc.contributor.author | Chow, P | - |
dc.contributor.author | Liu, A | - |
dc.contributor.author | Lee, P | - |
dc.contributor.author | Wong, V | - |
dc.contributor.author | Chan, K | - |
dc.contributor.author | Tang, M | - |
dc.contributor.author | Lun, KS | - |
dc.contributor.author | Lau, ETK | - |
dc.contributor.author | Cheung, YF | - |
dc.contributor.author | Chau, KT | - |
dc.contributor.author | Lau, YL | - |
dc.date.accessioned | 2013-07-15T10:28:41Z | - |
dc.date.available | 2013-07-15T10:28:41Z | - |
dc.date.issued | 2013 | en_US |
dc.identifier.citation | The 2013 European Human Genetics Conference (ESHG 2013), Paris, France, 8-11 June 2013.In European Journal of Human Genetics, 2013, v. 21 suppl. 2, p. 134, abstract no. P04.15 | en_US |
dc.identifier.issn | 1018-4813 | - |
dc.identifier.uri | http://hdl.handle.net/10722/185075 | - |
dc.description | Session G - Internal organs and endocrinology (heart, kidney, liver, gastrointestinal) - Poster Session P04-S: no. P04.15 | - |
dc.description.abstract | 22q11.2 deletion syndrome (22q11DS) is a common genetic diagnosis in patients with congenital heart disease (CHD). It is multi-systemic with both congenital and later-onset features with lifelong consequences. Variable clinical expression and limited awareness contribute to its under-diagnosis. With low childhood mortality, there is an increasing number of diagnosed/undiagnosed adults, posi... | - |
dc.language | eng | en_US |
dc.publisher | Nature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg | - |
dc.relation.ispartof | European Journal of Human Genetics | en_US |
dc.subject | 22q11.2 deletion | - |
dc.subject | Congenital heart disease | - |
dc.subject | Adult | - |
dc.title | Identification of 22q11.2 deletion in patients from adult congenital heart disease clinic - a missed burden in the transition care | en_US |
dc.type | Conference_Paper | en_US |
dc.identifier.email | Chung, B: bhychung@hku.hk | en_US |
dc.identifier.email | Liu, A: apyliu@hku.hk | - |
dc.identifier.email | Wong, V: vcnwong@hku.hk | - |
dc.identifier.email | Lun, KS: lunks@hkucc.hku.hk | - |
dc.identifier.email | Lau, ETK: etklau@hkucc.hku.hk | - |
dc.identifier.email | Cheung, YF: xfcheung@hku.hk | - |
dc.identifier.email | Chau, KT: aktchau@hku.hk | - |
dc.identifier.email | Lau, YL: lauylung@hku.hk | - |
dc.identifier.authority | Chung, B=rp00473 | en_US |
dc.description.nature | link_to_OA_fulltext | - |
dc.identifier.hkuros | 215392 | en_US |
dc.identifier.volume | 21 | - |
dc.identifier.issue | suppl. 2 | - |
dc.identifier.spage | 134, abstract no. P04.15 | - |
dc.identifier.epage | 134, abstract no. P04.15 | - |
dc.publisher.place | United Kingdom | - |
dc.identifier.issnl | 1018-4813 | - |