A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene

A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene

Abstract 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 bil...

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Bibliographic Details
Main Authors: Fábio Tadeu Arrojo Martins, Berenice Dias Ramos, Edi Lúcia Sartorato
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2018-11-01
Series:Genetics and Molecular Biology
Subjects:
HDR syndrome
hypoparathyroidism
deafness
renal abnormalities
whole exome sequencing
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500794&lng=en&tlng=en

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