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Conference Paper: From heterotaxy to VACTER-H syndrome: the clinical variability of ZIC3-related disorders

TitleFrom heterotaxy to VACTER-H syndrome: the clinical variability of ZIC3-related disorders
Authors
Keating, SChung, BHYShaffer, LChitayat, D
Issue Date2009
Citation
The 59th Annual Meeting of the American Society of Human Genetics (ASHG 2009), Honolulu, HI., 20-24 October 2009. How to Cite?
AbstractBACKGROUND: The ZIC3 gene functions as a transcription factor in early stages of left-right body axis formation. Mutations in ZIC3 gene cause a variety of clinical manifestations including isolated congenital heart disease (CHD), heterotaxy & other midline CNS, urogenital & hindgut malformations. We report a four generation family with X-linked heterotaxy associated with a deletion of the ZIC3 gene at ...
Persistent Identifierhttp://hdl.handle.net/10722/197326

 

DC FieldValueLanguage
dc.contributor.authorKeating, Sen_US
dc.contributor.authorChung, BHYen_US
dc.contributor.authorShaffer, Len_US
dc.contributor.authorChitayat, Den_US
dc.date.accessioned2014-05-23T02:42:26Z-
dc.date.available2014-05-23T02:42:26Z-
dc.date.issued2009en_US
dc.identifier.citationThe 59th Annual Meeting of the American Society of Human Genetics (ASHG 2009), Honolulu, HI., 20-24 October 2009.en_US
dc.identifier.urihttp://hdl.handle.net/10722/197326-
dc.description.abstractBACKGROUND: The ZIC3 gene functions as a transcription factor in early stages of left-right body axis formation. Mutations in ZIC3 gene cause a variety of clinical manifestations including isolated congenital heart disease (CHD), heterotaxy & other midline CNS, urogenital & hindgut malformations. We report a four generation family with X-linked heterotaxy associated with a deletion of the ZIC3 gene at ...-
dc.languageengen_US
dc.relation.ispartofAnnual Meeting of the American Society of Human Genetics, ASHG 2009en_US
dc.titleFrom heterotaxy to VACTER-H syndrome: the clinical variability of ZIC3-related disordersen_US
dc.typeConference_Paperen_US
dc.identifier.emailChung, BHY: bhychung@hku.hken_US
dc.identifier.authorityChung, BHY=rp00473en_US
dc.description.naturepostprint-
dc.identifier.hkuros167727en_US

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