Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation

The aim of this study was to identify the causative mutation in a family with an unusual presentation of autosomal dominant osteopetrosis (OPT), proximal renal tubular acidosis (RTA), renal stones, epilepsy, and blindness, a combination of features not previously reported. We undertook exome sequenc...

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Detalles Bibliográficos
Autores principales: Piret, Sian E., Gorvin, Caroline M., Trinh, Anne, Taylor, John, Lise, Stefano, Taylor, Jenny C., Ebeling, Peter R., Thakker, Rajesh V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5132132/
https://www.ncbi.nlm.nih.gov/pubmed/27540713
http://dx.doi.org/10.1002/ajmg.a.37755

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5132132/
https://www.ncbi.nlm.nih.gov/pubmed/27540713
http://dx.doi.org/10.1002/ajmg.a.37755

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