Catarina I Gonçalves Josianne N Carriço Omneya M Omar Ebtesam Abdalla Manuel C Lemos
10.3389/fendo.2023.1207425
Front Endocrinol (Lausanne)
2023 Aug 4;14:1207425.
gata3 hdr syndrome cryptic splice site deafness hypoparathyroidism renal dysplasia splice site mutation
CC BY
https://pubmed.ncbi.nlm.nih.gov/37600721/
Deafness Hypoparathyroidism / complications Hypoparathyroidism / genetics
Deafness Hypoparathyroidism / complications Hypoparathyroidism / genetics Case Reports Research Support, Non-U.S. Gov't Child Female GATA3 Transcription Factor / genetics Humans Mutation RNA Splice Sites RNA Splice Sites GATA3 protein, human GATA3 Transcription Factor Barakat syndrome
PMC10436458
37600721
Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site
2023