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Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation
The molecular mechanisms involved in thyroid organogenesis have not been fully elucidated. We report a patient with a de novo germline AKT3 variant, NM_005465.7:c.233A > G, p.(Gln78Arg), who presented with congenital hypothyroidism in addition to typical AKT3-related brain disorders. The report o...
Autores principales: | Mori, Jun, Hasegawa, Tatsuji, Miyamoto, Yosuke, Kitamura, Kazumasa, Morimoto, Hidechika, Tozawa, Takenori, Pooh, Ritsuko Kimata, Chiyonobu, Tomohiro |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9166760/ https://www.ncbi.nlm.nih.gov/pubmed/35665751 http://dx.doi.org/10.1038/s41439-022-00197-7 |
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