Agenesis of the Inferior Vena Cava in H Syndrome Due to a Novel SLC29A3 Mutation. Issue 5 (14th February 2013)

• Record Type: Journal Article
• Authors: Mutlu, Gül Yesiltepe; Ramot, Yuval; Babaoglu, Kadir; Altun, Gurkan; Zlotogorski, Abraham; Molho‐Pessach, Vered
• Is Part Of: Pediatric dermatology. Volume 30:Issue 5(2013)
• Page Start: e70
• Page End: e73
• Publication Date: 2013-02-14
• Subjects: Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.12085
• Languages: English
• ISSNs: 0736-8046

Abstract

<abstract abstract-type="main" id="pde12085-abs-0001"> <title>Abstract</title> <p>We present a 10‐year‐old girl with typical clinical features of H syndrome. Complete agenesis of the inferior vena cava was found on echocardiography and radiologic studies. Mutation analysis of the <italic>SLC29A3</italic> gene revealed a novel nonsense mutation. This unique case extends the clinical and mutation spectrum associated with H syndrome and underlines the importance of routine cardiac screening in this disorder.</p> </abstract>