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Article

A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.

Molecular genetics & genomic medicine - 1 Nov 2017

Lara-Velazquez Montserrat, Perdomo-Pantoja Alexander, Blackburn Patrick R, Gass Jennifer M, Caulfield Thomas R, Atwal Paldeep S

Abstract excerpt

BACKGROUND: The CYP11A1 gene encodes the cytochrome P450 side-chain cleavage enzyme, which is essential for steroid formation. Recessive variants in this gene can lead to impairment of sexual differentiation caused by a complete or partial loss of steroid hormone production. The phenotypic spectrum in affected 46XY males may vary from surgically repairable defects including cryptorchidism and hypospadias to...

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Identifiers

PMID: 29178636
DOI: 10.1002/mgg3.322
PMCID: PMC5702577

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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