Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population
BACKGROUND: 17α-hydroxylase deficiency is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene. The major clinical presentation includes hypertension, hypokalemia, male pseudohermaphroditism and female gonadal dysplasia. Hundreds of patho...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6792268/ https://www.ncbi.nlm.nih.gov/pubmed/31636948 http://dx.doi.org/10.1186/s40885-019-0128-6 |