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Article

Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata.

Prenatal diagnosis - 1 Sept 2003

Whittock N V, Izatt L, Simpson-Dent S L, Becker K, Wakelin S H

Abstract excerpt

X-linked dominant chondrodysplasia punctata, (CDPX2-MIM302960) also known as Conradi-Hünermann-Happle syndrome, is a rare form of skeletal dysplasia that affects the skeleton, skin, hair, and eyes. The disorder is caused by mutations within the emopamil binding protein (Ebp) that functions as a delta(8), delta(7) sterol isomerase in the cholesterol biosynthesis pathway. To date, over 40 separate mutations have...

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Source

Identifiers

PMID: 12975777
DOI: 10.1002/pd.667

Genes

EBP

Provenance

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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Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata.PMID 12975777Read ↗

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