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Article

DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation.

Human genetics - 1 Nov 2020

Elzaiat Maëva, Flatters Delphine, Sierra-Díaz Diana Carolina, Legois Berangère, Laissue Paul, Veitia Reiner A

Abstract excerpt

In humans, pathogenic variants in the DHH gene underlie cases of 46,XY gonadal dysgenesis. DHH is part of the Hedgehog family of proteins, which require extensive processing, including self-cleavage of the precursor for efficient signalling. In our work, we have assessed the effect of several human DHH pathogenic variants involved in recessive complete or partial gonadal dysgenesis, on protein processing and...

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Source

Identifiers

PMID: 32504121
DOI: 10.1007/s00439-020-02189-5

Genes

DHH

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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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