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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2023
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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 |