Severe Congenital Hypothyroidism Due to a Novel Deep Intronic Mutation in the TSH Receptor Gene Causing Intron Retention

In 3 Somalian siblings with severe nongoitrous congenital hypothyroidism, exome sequencing identified a variant in TSHR predicted to be benign in isoform 3 but leading to an intronic mutation in isoform 1 (NM_00369:c.692 + 130C>A), which is the isoform expressed in the thyroid. This mutation crea...

Descripción completa

Detalles Bibliográficos
Autores principales: Larrivée-Vanier, Stéphanie, Magne, Fabien, Hamdoun, Elwaseila, Petryk, Anna, Kibar, Zoha, Van Vliet, Guy, Deladoëy, Johnny
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7814390/
https://www.ncbi.nlm.nih.gov/pubmed/33506157
http://dx.doi.org/10.1210/jendso/bvaa183

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7814390/
https://www.ncbi.nlm.nih.gov/pubmed/33506157
http://dx.doi.org/10.1210/jendso/bvaa183

Ejemplares similares