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Article

Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.

European journal of medical genetics - 1 Jan 2000

Hellenbroich Yorck, Grzeschik Karl-Heinz, Krapp Martin, Jarutat Tiantom, Lehrmann-Petersen Christa, Buiting Karin, Gillessen-Kaesbach Gabriele

Abstract excerpt

X-linked dominant chondrodysplasia punctata (Conradi-Hünermann disease, CDPX2) is characterised by short stature, stippled epiphyses, cataracts, ichthyosiform erythroderma and patchy alopecia of the scalp. The disorder is caused by mutations within the emopamil binding protein (EBP) gene encoding a 3beta-hydroxysteroid-Delta(8),Delta(7)-isomerase. The intrafamilial variation of disease severity is a known feature...

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Source

Identifiers

PMID: 17625999
DOI: 10.1016/j.ejmg.2007.05.004

Genes

EBP

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.PMID 17625999Read ↗

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

Severe X-linked chondrodysplasia punctata in nine new female fetuses.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 ↗

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

X-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings.Semantic proximity Read ↗

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

X‐linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a maleSemantic proximity Read ↗

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

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