Varaico: Literature-Extracted Genetic Variants

Gene:CYP17A1
Variant:p.F489del1
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CYP17A1

NM_000102.4:p.F489del1

Associated Papers

A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review.

Chen H et al.

Blood Pressure, 2023

17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature.

Maheshwari M et al.

Journal of the Endocrine Society, 2022

Clinical characteristics and mutation analysis of two Chinese children with 17a-hydroxylase/17,20-lyase deficiency.

Zhu Z et al.

International Journal of Clinical and Experimental Medicine, 2015

Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency.

Shi M et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2014

CYP17A1 mutations identified in 17 Chinese patients with 17α-hydroxylase/17,20-lyase deficiency.

Yao F et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2013

Clinical and genetic analysis for two Chinese siblings with 17α-hydroxylase/17,20-lyase deficiency.

Zhou Q et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2012

Phenotypic variation in a Chinese family with 46,XY and 46,XX 17α-hydroxylase deficiency.

Bee YM et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2012

Rare hypertension as a result of 17alpha-hydroxylase deficiency.

Wang W et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011

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