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A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17‐hydroxylase and 17, 20‐lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene. Issue 10 (26th August 2015)
Record Type:
Journal Article
Title:
A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17‐hydroxylase and 17, 20‐lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene. Issue 10 (26th August 2015)
Main Title:
A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17‐hydroxylase and 17, 20‐lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene
<abstract abstract-type="main" id="ccr3343-abs-0001"> <title>Key Clinical Message</title> <p>A novel homozygous long‐range deletion of the <italic>CYP17A1</italic> gene abolished protein expression and caused the severest form of 17‐hydroxylase deficiency in one kindred of a Turkish family. The affected subjects presented with 46, XY sex reversal and 46, XX lack of pubertal development as well as severe hypertension.</p> </abstract>