A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review

Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an infrequent autosomal dominant genetic disorder caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene. In this report, we present a case study of a 6-year-old female patient manifesting seizures, tetany, hypopara...

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Detalles Bibliográficos
Autores principales: Tao, Yilun, Yang, Lin, Han, Dong, Zhao, Chen, Song, Wenxia, Wang, Haiwei, Li, Xiaoze, Wang, Lihong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10485837/
https://www.ncbi.nlm.nih.gov/pubmed/37693317
http://dx.doi.org/10.3389/fgene.2023.1254556

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10485837/
https://www.ncbi.nlm.nih.gov/pubmed/37693317
http://dx.doi.org/10.3389/fgene.2023.1254556

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