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Article

MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2017

Granados Andrea, Alaniz Veronica I, Mohnach Lauren, Barseghyan Hayk, Vilain Eric, Ostrer Harry, Quint Elisabeth H, Chen Ming, Keegan Catherine E

Abstract excerpt

Investigation of disorders of sex development (DSD) has resulted in the discovery of multiple sex-determining genes. MAP3K1 encodes a signal transduction regulator in the sex determination pathway and is emerging as one of the more common genes responsible for 46,XY DSD presenting as complete or partial gonadal dysgenesis. Clinical assessment, endocrine evaluation, and genetic analysis were performed in six...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28504475
DOI: 10.1002/ajmg.c.31559
PMCID: PMC5489227

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