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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...

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書目詳細資料
發表在:Endocrine
Main Authors: Szczepanek-Parulska, Ewelina, Budny, Bartłomiej, Borowczyk, Martyna, Zawadzka, Katarzyna, Sztromwasser, Paweł, Ruchała, Marek
格式: Artigo
語言:Inglês
出版: Springer US 2020
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7881956/
https://ncbi.nlm.nih.gov/pubmed/32696176
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12020-020-02422-1
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