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...

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Detalles Bibliográficos
Autores principales: Tanase-Nakao, Kanako, Muroya, Koji, Adachi, Masanori, Abe, Kiyomi, Hasegawa, Tomonobu, Narumi, Satoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2022
Materias:
Case Report
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

Internet

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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