Exome Capture and Massively Parallel Sequencing Identifies a Novel HPSE2 Mutation in a Saudi Arabian Child with Ochoa (Urofacial) Syndrome

We describe a child of Middle Eastern descent by first-cousin mating with idiopathic neurogenic bladder and high grade vesicoureteral reflux at 1 year of age, whose characteristic facial grimace led to the diagnosis of Ochoa (Urofacial) syndrome at age 5 years. We used homozygosity mapping, exome ca...

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Detalhes bibliográficos
Main Authors: Al Badr, Wisam, Al Bader, Suha, Otto, Edgar, Hildebrandt, Friedhelm, Ackley, Todd, Peng, Weiping, Xu, Jishu, Li, Jun, Owens, Kailey M., Bloom, David, Innis, Jeffrey W.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3157539/
https://ncbi.nlm.nih.gov/pubmed/21450525
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpurol.2011.02.034
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