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Article

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.

American journal of medical genetics. Part A - 1 Nov 2010

Furtado Larissa V, Bayrak-Toydemir Pinar, Hulinsky Becki, Damjanovich Kristy, Carey John C, Rope Alan F

Abstract excerpt

Mutations of the gene coding for emopamil binding protein (EBP) can lead to deficient activity of 3-β-hydroxysteroid Δ(8), Δ(7) isomerase and are most commonly identified in. association with the X-linked dominant (male lethal) chondrodysplasia punctata (CDPX2), also known as Conradi-Hunermann syndrome. Our group has identified a hemizygous EBP mutation in males with a phenotype remarkable for Dandy-Walker...

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Source

Identifiers

PMID: 20949533
DOI: 10.1002/ajmg.a.33674

Genes

EBP

Variants

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.PMID 20949533Read ↗

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

An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.Semantic proximity Read ↗

Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.Semantic proximity Read ↗

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

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.Semantic proximity Read ↗

Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation.Semantic proximity Read ↗

Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.Semantic proximity Read ↗

Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.Semantic proximity Read ↗

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.Semantic proximity Read ↗

Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).Semantic proximity Read ↗

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.Semantic proximity Read ↗

Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.Semantic proximity Read ↗

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