AUTHOR=Gonçalves Catarina I. , Carriço Josianne N. , Omar Omneya M. , Abdalla Ebtesam , Lemos Manuel C. TITLE=Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site JOURNAL=Frontiers in Endocrinology VOLUME=14 YEAR=2023 URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2023.1207425 DOI=10.3389/fendo.2023.1207425 ISSN=1664-2392 ABSTRACT=
The HDR syndrome is a rare autosomal dominant disorder characterised by Hypoparathyroidism, Deafness, and Renal dysplasia, and is caused by inactivating heterozygous germline mutations in the