The length of FOXE1 polyalanine tract in congenital hypothyroidism: Evidence for a pathogenic role from familial, molecular and cohort studies

INTRODUCTION: FOXE1 is required for thyroid function and its homozygous mutations cause a rare syndromic form of congenital hypothyroidism (CH). FOXE1 has a polymorphic polyalanine tract whose involvement in thyroid pathology is controversial. Starting from genetic studies in a CH family, we explore...

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Detalles Bibliográficos
Autores principales: Grassi, Elisa Stellaria, Rurale, Giuditta, de Filippis, Tiziana, Gentilini, Davide, Carbone, Erika, Coscia, Francesca, Uraghi, Sarah, Bullock, Martyn, Clifton-Bligh, Roderick J., Gupta, Abhinav K., Persani, Luca
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/PMC10060985/
https://www.ncbi.nlm.nih.gov/pubmed/37008944
http://dx.doi.org/10.3389/fendo.2023.1127312

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10060985/
https://www.ncbi.nlm.nih.gov/pubmed/37008944
http://dx.doi.org/10.3389/fendo.2023.1127312

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