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Article

The Conradi-Hünermann-Happle syndrome is caused by mutations in the gene that encodes a 8- 7 sterol isomerase and is biochemically related to the CHILD syndrome.

European journal of dermatology : EJD - 1 Aug 2000

Traupe H, Has C

Abstract excerpt

We here review the clinical and genetic features of the Conradi-Hünermann-Happle syndrome. The disease is characterized by chondrodysplasia punctata, linear ichthyosis, cataract, and short stature. The X-linked dominant mode of inheritance was first recognized by Rudolf Happle in the years 1977 t...

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Share to 3-Hydroxysteroid Dehydrogenases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10980461

Genes

NSDHL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10980461-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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