Identification and functional characterization of a novel PAX8 mutation (p.His39Pro) causing familial thyroid hypoplasia

Mutations in PAX8, the gene for a thyroid-specific transcription factor, causes congenital hypothyroidism (CH) with autosomal dominant inheritance. All previously detected PAX8 mutations except one are located in the DNA-binding paired domain. The proband, a 1-yr-old boy, was diagnosed with CH in th...

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Detalles Bibliográficos
Autores principales: Iwahashi-Odano, Megumi, Fujisawa, Yasuko, Ogata, Tsutomu, Nakashima, Shinichi, Muramatsu, Mayumi, Narumi, Satoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7534521/
https://www.ncbi.nlm.nih.gov/pubmed/33088016
http://dx.doi.org/10.1297/cpe.29.173

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7534521/
https://www.ncbi.nlm.nih.gov/pubmed/33088016
http://dx.doi.org/10.1297/cpe.29.173

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