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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

TitleIdentification of 22q11.2 deletion in patients from adult congenital heart disease clinic - a missed burden in the transition care
Authors
Keywords22q11.2 deletion
Congenital heart disease
Adult
Issue Date2013
PublisherNature 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?
Abstract22q11.2 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...
DescriptionSession G - Internal organs and endocrinology (heart, kidney, liver, gastrointestinal) - Poster Session P04-S: no. P04.15
Persistent Identifierhttp://hdl.handle.net/10722/185075
ISSN
2015 Impact Factor: 4.58
2015 SCImago Journal Rankings: 2.077

 

DC FieldValueLanguage
dc.contributor.authorChung, Ben_US
dc.contributor.authorChow, P-
dc.contributor.authorLiu, A-
dc.contributor.authorLee, P-
dc.contributor.authorWong, V-
dc.contributor.authorChan, K-
dc.contributor.authorTang, M-
dc.contributor.authorLun, KS-
dc.contributor.authorLau, ETK-
dc.contributor.authorCheung, YF-
dc.contributor.authorChau, KT-
dc.contributor.authorLau, YL-
dc.date.accessioned2013-07-15T10:28:41Z-
dc.date.available2013-07-15T10:28:41Z-
dc.date.issued2013en_US
dc.identifier.citationThe 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. P04.15en_US
dc.identifier.issn1018-4813-
dc.identifier.urihttp://hdl.handle.net/10722/185075-
dc.descriptionSession G - Internal organs and endocrinology (heart, kidney, liver, gastrointestinal) - Poster Session P04-S: no. P04.15-
dc.description.abstract22q11.2 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.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg-
dc.relation.ispartofEuropean Journal of Human Geneticsen_US
dc.subject22q11.2 deletion-
dc.subjectCongenital heart disease-
dc.subjectAdult-
dc.titleIdentification of 22q11.2 deletion in patients from adult congenital heart disease clinic - a missed burden in the transition careen_US
dc.typeConference_Paperen_US
dc.identifier.emailChung, B: bhychung@hku.hken_US
dc.identifier.emailLiu, A: apyliu@hku.hk-
dc.identifier.emailWong, V: vcnwong@hku.hk-
dc.identifier.emailLun, KS: lunks@hkucc.hku.hk-
dc.identifier.emailLau, ETK: etklau@hkucc.hku.hk-
dc.identifier.emailCheung, YF: xfcheung@hku.hk-
dc.identifier.emailChau, KT: aktchau@hku.hk-
dc.identifier.emailLau, YL: lauylung@hku.hk-
dc.identifier.authorityChung, B=rp00473en_US
dc.description.naturelink_to_OA_fulltext-
dc.identifier.hkuros215392en_US
dc.identifier.volume21-
dc.identifier.issuesuppl. 2-
dc.identifier.spage134, abstract no. P04.15-
dc.identifier.epage134, abstract no. P04.15-
dc.publisher.placeUnited Kingdom-

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