A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness

BACKGROUND: The TBX1 gene encodes the T-box 1 protein that is a transcription factor involved in development. Haploinsufficiency of the TBX1 gene is reported to cause features similar to DiGeorge syndrome. The TBX1 gene is located within the DiGeorge syndrome region, and studies support that the TBX...

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Detalles Bibliográficos
Autores principales: Alghamdi, Malak, Al Khalifah, Reem, Al Homyani, Doua K, Alkhamis, Waleed H, Arold, Stefan T, Ekhzaimy, Aishah, El-Wetidy, Mohammed, Kashour, Tarek, Halwani, Rabih
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Clinical Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041699/
https://www.ncbi.nlm.nih.gov/pubmed/32110744
http://dx.doi.org/10.1210/jendso/bvz028

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