Open AccessClinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome
Author(s) -
Hendrica Belge,
Karin Dahan,
J Cambier,
Valérie Benoît,
Johann Morelle,
J. Bloch,
Philippe Vanhille,
Yves Pirson,
Nathalie Demoulin
Publication year - 2016
Publication title -
nephrology dialysis transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.654
H-Index - 168
eISSN - 1460-2385
pISSN - 0931-0509
DOI - 10.1093/ndt/gfw271
Subject(s) - medicine , renal dysplasia , penetrance , hypoparathyroidism , focal segmental glomerulosclerosis , nephrotic syndrome , missense mutation , kidney disease , hearing loss , hypocalcaemia , dysplasia , pathology , pediatrics , gastroenterology , proteinuria , kidney , mutation , phenotype , genetics , audiology , calcium , biology , gene
Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder, secondary to mutations in the GATA-3 gene. Due to its wide range of penetrance and expressivity, the disease may not always be recognized. We herein describe clinical and genetic features of patients with HDR syndrome, highlighting diagnostic clues.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom