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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer US
2020
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| Materias: | |
| 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 |