A VERY INFREQUENT ASSOCIATION OF WILLIAM-BEURAN SYNDROME AND TETRALOGY OF FALLOT

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dc.creatorS Kollur, Banashankari
dc.creatorMulimani, M S
dc.creatorGiraddi, Timmanna
dc.creatorJ V, Bomman
dc.creatorGowda, Shashank
dc.creatorPatil, Anupama
dc.creatorManaguli, Sushmita
dc.date.accessioned2026-01-10T18:52:48Z
dc.date.available2026-01-10T18:52:48Z
dc.date.issued2017-04-18
dc.descriptionWB-S Autosomal Dominant Disorder is the most common genetic disorder. We report a case of 20 year old with infrequent association of WBS and TOF. Clinical examination and ECHO confirmed TOF, WB-S was suspected based on the clinical signs used in the scoring system of WB-S which were described by AAP(2001), FISH study was performed in this patient because of having more than 3 clinical signs of WB-S and FISH study showed 7q11.23 deletion and remains the gold standard laboratory investigation for WB-S. KEYWORDS: Tetralogy of Fallot; William Beuren Syndrome; Clinical Diagnosis; Fluroscence In Situ Hybridisation.en-US
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dc.identifierhttps://sumathipublications.com/index.php/ijcbr/article/view/142
dc.identifier.urihttps://repos.sumathipublications.com:8000/handle/123456789/139
dc.languageeng
dc.publisherSumathi Publicationsen-US
dc.relationhttps://sumathipublications.com/index.php/ijcbr/article/view/142/168
dc.relation.ispartofInternational Journal of Clinical and Biomedical Researchen-US
dc.relation.ispartofseriesVolume 3, Issue 2en-US
dc.rightsCopyright (c) 2017 Banashankari S Kollur, M S Mulimani, Timmanna Giraddi, Bomman J V, Shashank Gowda, Anupama Patil, Sushmita Managulien-US
dc.sourceInternational Journal of Clinical and Biomedical Research; Volume 3, Issue 2; April 2017; 24-26en-US
dc.source2395-0471
dc.source2521-0394
dc.titleA VERY INFREQUENT ASSOCIATION OF WILLIAM-BEURAN SYNDROME AND TETRALOGY OF FALLOTen-US
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion

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