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
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
In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.
Tajouri A et al.
Human Mutation, 2018
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
Gene mutations associated with anomalies of human gonad formation.
Bashamboo A et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2013
Understanding the genetic aetiology in patients with XY DSD.
Ahmed SF et al.
British Medical Bulletin, 2013
A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis.
Canto P et al.
Molecular Human Reproduction, 2005