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Article

A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.

American journal of medical genetics. Part A - 1 Jul 2014

Barboza-Cerda María C, Wong Lee-Jun, Martínez-de-Villarreal Laura E, Zhang Victor Wei, Déctor Miguel A

Abstract excerpt

Mutations in the Emopamil-binding protein (EBP) gene cause X-linked dominant chondrodysplasia punctata 2 (CDPX2), a disorder in which at least 95% of liveborn individuals are female and male intrauterine lethality is assumed. Several affected males with mutations in EBP have been reported. These males exhibit a phenotype similar to CDPX2 due to either somatic mosaicism or a 47, XXY karyotype in association with a...

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Source

Identifiers

PMID: 24700572
DOI: 10.1002/ajmg.a.36508

Genes

EBP

Variants

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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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A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.PMID 24700572Read ↗

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.Semantic proximity Read ↗

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