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A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene
HDR syndrome is a rare autosomal dominant disorder caused by mutations in the GATA3 gene and characterized by hypoparathyroidism, sensorineural deafness and renal abnormalities. Here we report a Brazilian family, from which the proband, his mother and his grandfather were diagnosed with bilateral se...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Sociedade Brasileira de Genética
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6415598/ https://www.ncbi.nlm.nih.gov/pubmed/30534854 http://dx.doi.org/10.1590/1678-4685-GMB-2017-0194 |