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Article

Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata.

Prenatal diagnosis - 1 May 2008

Tysoe Carolyn, Law Caroline J, Caswell Richard, Clayton Peter, Ellard Sian

Abstract excerpt

OBJECTIVE: To determine the pathogenicity of a novel conserved missense mutation, p.Ser98Phe, in the emopamil binding protein (EBP) gene in order to perform a prenatal diagnostic test for X-linked dominant chondrodysplasia punctata (CDPX2) in a male foetus at 50% risk. METHODS: Family members were tested for p.Ser98Phe using PCR and sequence analysis of leucocyte or buccal cell DNA. Haplotype analysis was...

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Source

Identifiers

PMID: 18395876
DOI: 10.1002/pd.1980

Genes

EBP

Variants

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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Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata.PMID 18395876Read ↗

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