Nail-patella syndrome—a novel mutation in the LMX1B gene

Nail-patella syndrome (NPS) is an autosomal-dominant pleiotropic disorder characterized by dyplasia of finger nails, skeletal anomalies and frequently renal disease. In the reported case, genetic analysis revealed a new missense mutation in the homeodomain of LMX1B, presumed to abolish DNA binding (...

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Detalles Bibliográficos
Autores principales: Nair, Rajesh R., Unni, Vavullipathy N., Indu, Kadevalappil N., Nampoothiri, Sheela, Mathew, Anil, Kurian, George, Vimala, Avadaiammal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Original Contributions
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4400480/
https://www.ncbi.nlm.nih.gov/pubmed/26064490
http://dx.doi.org/10.1093/ckj/sft035

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