Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity

Nail–Patella Syndrome (NPS) is a rare autosomal dominant condition comprising nail and skeletal anomalies. Skeletal features include dysplastic patellae and iliac horns, as well as scapula and elbow dysplasia. Nephropathy and glaucoma or intra-ocular hypertension can sometimes be present. NPS is due...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Ghoumid, Jamal, Petit, Florence, Holder-Espinasse, Muriel, Jourdain, Anne-Sophie, Guerra, José, Dieux-Coeslier, Anne, Figeac, Martin, Porchet, Nicole, Manouvrier-Hanu, Sylvie, Escande, Fabienne
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795216/
https://ncbi.nlm.nih.gov/pubmed/25898926
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.77
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