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Article

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

Cellular and molecular biology (Noisy-le-Grand, France) - 1 Mar 2002

Umehara Fujio, Tate Genshu, Itoh Kayoko, Osame Mitsuhiro

Abstract excerpt

We recently found a patient with 46,XY partial gonadal dysgenesis who presented with polyneuropathy. Sural nerve pathology revealed peculiar findings characterized by extensive minifascicular formation and with a decreased density of myelinated fibers. We found in the patient, a homozygous missense mutation at the initiating codon in exon 1 of the desert hedgehog (DHH) gene, which predicts a failure of...

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Share to Gonadal Dysgenesis, 46,XY
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Source

Identifiers

PMID: 11990454

Genes

DHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Minifascicular neuropathy: a new concept of the human disease caused by desert hedgehog gene mutation.PMID 11990454Read ↗

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

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Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility.Semantic proximity Read ↗

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