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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Eur J Hum Genet
Hlavní autoři: Ghoumid, Jamal, Petit, Florence, Holder-Espinasse, Muriel, Jourdain, Anne-Sophie, Guerra, José, Dieux-Coeslier, Anne, Figeac, Martin, Porchet, Nicole, Manouvrier-Hanu, Sylvie, Escande, Fabienne
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2016
Témata:
Article
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky