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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
Chung, BChow, PLiu, ALee, PWong, VChan, KTang, MLun, KSLau, ETKCheung, YFChau, KTLau, YL
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
1018-4813
2023 Impact Factor: 3.7
2023 SCImago Journal Rankings: 1.538

 

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-
dc.identifier.issnl1018-4813-

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