Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a
GATA3
HDR syndrome
cryptic splice site
deafness
hypoparathyroidism
renal dysplasia
splice site mutation
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2023
2023
Historique:
received:
17
04
2023
accepted:
13
07
2023
medline:
22
8
2023
pubmed:
21
8
2023
entrez:
21
8
2023
Statut:
epublish
Résumé
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
Identifiants
pubmed: 37600721
doi: 10.3389/fendo.2023.1207425
pmc: PMC10436458
doi:
Substances chimiques
RNA Splice Sites
0
GATA3 protein, human
0
GATA3 Transcription Factor
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1207425Informations de copyright
Copyright © 2023 Gonçalves, Carriço, Omar, Abdalla and Lemos.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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