Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis

PURPOSE: Thyroid hemiagenesis (THA) is an inborn absence of one thyroid lobe of largely unknown etiopathogenesis, affecting 0.05–0.5% population. The aim of the study was an identification of genetic factors responsible for thyroid maldevelopment in two siblings with THA. METHODS: We evaluated a thr...

Descripción completa

Detalles Bibliográficos
Autores principales: Szczepanek-Parulska, Ewelina, Budny, Bartłomiej, Borowczyk, Martyna, Zawadzka, Katarzyna, Sztromwasser, Paweł, Ruchała, Marek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2020
Materias:
Endocrine Genetics/Epigenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7881956/
https://www.ncbi.nlm.nih.gov/pubmed/32696176
http://dx.doi.org/10.1007/s12020-020-02422-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7881956/
https://www.ncbi.nlm.nih.gov/pubmed/32696176
http://dx.doi.org/10.1007/s12020-020-02422-1

Ejemplares similares