title: Agenesis of the inferior vena cava in H syndrome due to a novel SLC29A3 mutation.
abstract: 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 SLC29A3 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.
authors: Department of Pediatric Endocrinology and Diabetes, Kocaeli University School of Medicine, Kocaeli, Turkey.
authors: Gül Yesiltepe
authors: GY
authors: Mutlu
authors: Yuval
authors: Y
authors: Ramot
authors: Kadir
authors: K
authors: Babaoglu
authors: Gurkan
authors: G
authors: Altun
authors: Abraham
authors: A
authors: Zlotogorski
authors: Vered
authors: V
authors: Molho-Pessach
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D002648:Child; D018389:Codon, Nonsense; D030541:Databases, Genetic; D005192:Family Health; D005260:Female; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics*; D006983:Hypertrichosis / Q000235:genetics*; D008969:Molecular Sequence Data; D033703:Nucleoside Transport Proteins / Q000235:genetics*; D012873:Skin Diseases, Genetic / Q000235:genetics*; D013577:Syndrome; D014682:Vena Cava, Inferior / Q000002:abnormalities*
chemical_list: D018389:Codon, Nonsense; D033703:Nucleoside Transport Proteins; C501424:SLC29A3 protein, human