Associated Papers
The Desert Hedgehog Signalling Pathway in Human Gonadal Development and Differences of Sex Development.
Pachernegg S et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
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
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
Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development.
Ayers K et al.
Journal of Medical Genetics, 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, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report.
Rothacker KM et al.
International Journal of Pediatric Endocrinology, 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
Partial duplication of DHH causes minifascicular neuropathy: A novel mutation detection of DHH.
Sato NS et al.
Annals of Clinical and Translational Neurology, 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
In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis.
Castro JJ et al.
Dna and Cell Biology, 2013
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
A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis.
Canto P et al.
Molecular Human Reproduction, 2005
Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis.
Canto P et al.
The Journal of Clinical Endocrinology and Metabolism, 2004