Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site

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 GATA3 gene. We report an 11-year-old girl with HDR syndrome caused by a heterozygous mutation located at the...

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Detalles Bibliográficos
Autores principales: Gonçalves, Catarina I., Carriço, Josianne N., Omar, Omneya M., Abdalla, Ebtesam, Lemos, Manuel C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10436458/
https://www.ncbi.nlm.nih.gov/pubmed/37600721
http://dx.doi.org/10.3389/fendo.2023.1207425

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10436458/
https://www.ncbi.nlm.nih.gov/pubmed/37600721
http://dx.doi.org/10.3389/fendo.2023.1207425

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