Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness

Hereditary distal renal tubular acidosis (dRTA) is caused by mutations of genes encoding subunits of the H(+)-ATPase (ATP6V0A4 and ATP6V1B1) expressed in α-intercalated cells of the distal renal tubule and in the cochlea. We report on a 2-year-old girl with distal RTA and profound speech delay which...

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Detalles Bibliográficos
Autores principales: Nikki, Rink, Martin, Bitzan, Gus, O'Gorman, Mato, Nagel, Elena, Torban, Paul, Goodyer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3433113/
https://www.ncbi.nlm.nih.gov/pubmed/22966473
http://dx.doi.org/10.1155/2012/605053

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3433113/
https://www.ncbi.nlm.nih.gov/pubmed/22966473
http://dx.doi.org/10.1155/2012/605053

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