Cargando…
Delayed Diagnosis of Congenital Hypoparathyroidism in a Kindred of Three Patients With Autosomal Dominant Deafness
Background: Congenital hypoparathyroidism can be related to autosomal dominant mutations or deletions in GATA-binding protein 3 gene on chromosome 10(1,2). Affected patients present with a triad of hypoparathyroidism, renal dysplasia and neurosensorial deafness. We hereby present the case of a patie...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2021
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089565/ http://dx.doi.org/10.1210/jendso/bvab048.383 |