Associated Papers
DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation.
Elzaiat M et al.
Human Genetics, 2020
46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene.
Neocleous V et al.
Hormones (athens, Greece), 2019
A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations.
Paris F et al.
Clinical Endocrinology, 2017
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S et al.
Genome Biology, 2016
27899157 (PubMed )
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