First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10p

First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10p

Abstract Background Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare autosomal dominant genetic disorder manifesting as a result of haploinsufficiency of the GATA3 gene. GATA3 is a member of zinc-finger transcription factors that...

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Bibliographic Details
Main Authors: Tumelo M. Satekge, Glenrose Rikhotso, Bianca Rossouw, Bronwyn Dillon, Fiona Baine-Savanhu
Format: Article
Language:English
Published: SpringerOpen 2024-12-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Hypoparathyroidism
Sensorineural deafness and renal disease syndrome
Barakat syndrome
Chromosomal microarray
GATA3
Online Access:https://doi.org/10.1186/s43042-024-00619-x

Internet

https://doi.org/10.1186/s43042-024-00619-x

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