Cargando…
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...
| Autores principales: | , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Japanese Society for Pediatric Endocrinology
2020
|
| Materias: | |
| 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 |