A carregar...
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...
Na minha lista:
| Publicado no: | Genet Mol Biol |
|---|---|
| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Sociedade Brasileira de Genética
2018
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6415598/ https://ncbi.nlm.nih.gov/pubmed/30534854 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2017-0194 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|