Agenesis of the Inferior Vena Cava in H Syndrome Due to a Novel   SLC 29A3  Mutation | Zendy

Mutlu Gül Yesiltepe | Zendy; Ramot Yuval | Zendy; Babaoglu Kadir | Zendy; Altun Gurkan | Zendy; Zlotogorski Abraham | Zendy; MolhoPessach Vered | Zendy

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Agenesis of the Inferior Vena Cava in H Syndrome Due to a Novel SLC 29A3 Mutation

Author(s) -

Mutlu Gül Yesiltepe,

Ramot Yuval,

Babaoglu Kadir,

Altun Gurkan,

Zlotogorski Abraham,

MolhoPessach Vered

Publication year - 2013

Publication title -

pediatric dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.542

H-Index - 73

eISSN - 1525-1470

pISSN - 0736-8046

DOI - 10.1111/pde.12085

Subject(s) - medicine , nonsense mutation , mutation , agenesis , inferior vena cava , nonsense , girl , vena cava , radiology , surgery , gene , genetics , missense mutation , biology

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 SLC 29A3 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.

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