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A patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation
PAX8 is a transcription factor that is expressed in the thyroid gland and kidneys. Monoallelic loss-of-function PAX8 variants cause congenital hypothyroidism (CH), and urogenital malformations are infrequent complications seen in less than 10% of PAX8 variant carriers. Herein, we report the case of...
Autores principales: | Tanase-Nakao, Kanako, Muroya, Koji, Adachi, Masanori, Abe, Kiyomi, Hasegawa, Tomonobu, Narumi, Satoshi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society for Pediatric Endocrinology
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9637417/ https://www.ncbi.nlm.nih.gov/pubmed/36405439 http://dx.doi.org/10.1297/cpe.2022-0030 |
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