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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:J Endocr Soc
Main Authors: 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: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2019
Assuntos:
Clinical Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7041699/
https://ncbi.nlm.nih.gov/pubmed/32110744
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvz028
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares