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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...
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| Udgivet i: | Genet Mol Biol |
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| Main Authors: | , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Sociedade Brasileira de Genética
2018
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| Fag: | |
| Online adgang: | 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 |
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