Novel non-synonymous mutations of PAX8 in a cohort of Chinese with congenital hypothyroidism
BACKGROUND: The transcription factor paired box 8 (PAX8) was associated with type 2 congenital non-goitrous hypothyroidism (CHNG2), a clinical phenotype of congenital hypothyroidism (CH). Though studied in a few regions with different ethnicities, the incidence of PAX8 mutations varied, even among C...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629355/ https://www.ncbi.nlm.nih.gov/pubmed/30888984 http://dx.doi.org/10.1097/CM9.0000000000000213 |