Title : A new compound heterozygous mutation in a female with 17α-hydroxylase/17,20-lyase deficiency, slipped capital femoral epiphysis, and adrenal myelolipoma.

Pub. Date : 2019 May

PMID : 30614301






2 Functional Relationships(s)
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1 17alpha-Hydroxylase/17,20-lyase deficiency (17-OHD) is a rare disease caused by mutations of the CYP17A1 gene. 17-ohd cytochrome P450 family 17 subfamily A member 1 Homo sapiens
2 For the first time, we report a 17-OHD case accompanied by SCFE, AML, and a novel mutation site in the CYP17A1 gene. 17-ohd cytochrome P450 family 17 subfamily A member 1 Homo sapiens