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
Hereditary neuropathies: A pathological perspective.
Cavallaro T et al.
Journal of the Peripheral Nervous System : Jpns, 2021
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
[Clinical Findings in Two patients with DSD 46XY caused by new variant of the Desert Hedgehog Gene and review of the literature of the role of DHH signaling pathway in sex development].
Kalinchenko NY et al.
Problemy Endokrinologii, 2021
Convergent pathological and ultrasound features in hereditary syndromic and non-syndromic minifascicular neuropathy related to DHH.
Boso F et al.
Journal of the Peripheral Nervous System : Jpns, 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
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
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