Pathogenic Variants in MAP3K1 Cause 46,XY Gonadal Dysgenesis: A Review

Pathogenic variants in the MAP3K1 gene are an important cause of 46,XY non-syndromic partial and complete gonadal dysgenesis, accounting for at least 4% of cases. Inheritance occurs in a sex-limited, autosomal dominant fashion with virtually complete penetrance in 46,XY individuals. 46,XX carriers a...

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Veröffentlicht in:	Sexual development 2022-11, Vol.16 (2-3), p.92-97
1. Verfasser:	Ostrer, Harry
Format:	Artikel
Sprache:	eng
Schlagworte:	Cellular signal transduction Gonadal Dysgenesis - genetics Gonadal Dysgenesis, 46,XY - genetics Gonadal Dysgenesis, 46,XY - pathology Heterozygote Humans Male MAP Kinase Kinase Kinase 1 - genetics Review Article Testis - pathology
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