A Novel Mutation in GATA3 Gene in a Case of Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome

A 39-year-old male was incidentally detected to have hypertension and chronic kidney disease (CKD) with left solitary functioning kidney in 2017. He has bilateral sensorineural hearing loss since adolescence. He was initially suspected to have adynamic bone disease in view of low parathyroid hormone...

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Detalles Bibliográficos
Autores principales: Prabhu, Pooja Prakash, Ballal, Sudarshan, Augustine, Rohan, Shetty, Mitesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593303/
https://www.ncbi.nlm.nih.gov/pubmed/37881737
http://dx.doi.org/10.4103/ijn.ijn_250_21