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Article

Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity.

Neuromuscular disorders : NMD - 1 Feb 2009

Baets Jonathan, Dierick Ines, Groote Chantal Ceuterick-de, Ende Jenneke van den, Martin Jean-Jacques, Geens Karin, Robberecht Wim, Nelis Eva, Timmerman Vincent, Jonghe Peter De

Abstract excerpt

Gonadal dysgenesis with normal male karyotype (46XY) is a sexual differentiation disorder. So far three patients have been reported presenting the association of 46XY gonadal dysgenesis with peripheral neuropathy. Examination of sural nerves revealed minifascicle formation in two of them. In one patient, a mutation was found in desert hedgehog homolog (Drosophila), a gene important in gonadal differentiation and...

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Identifiers

PMID: 19167223
DOI: 10.1016/j.nmd.2008.11.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity.PMID 19167223Read ↗

Minifascicular neuropathy: a new concept of the human disease caused by desert hedgehog gene mutation.Semantic proximity Read ↗

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[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].Semantic proximity Read ↗

Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis.Semantic proximity Read ↗

A Novel Mutation of<i>desert hedgehog</i>in a Patient with 46,XY Partial Gonadal Dysgenesis Accompanied by Minifascicular NeuropathySemantic proximity Read ↗

46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred.Semantic proximity Read ↗

Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis.Semantic proximity Read ↗

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A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis.Semantic proximity Read ↗

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