Associated Papers
Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child.
Pan L et al.
Frontiers in Genetics, 2022
Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility.
Mehta P et al.
Journal of Assisted Reproduction and Genetics, 2021
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
Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review.
Baldinotti F et al.
Hormone Research in Paediatrics, 2018
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
46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.
Werner R et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Mammalian sex determination—insights from humans and mice.
Eggers S et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology, 2012
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