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Article

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

Nature genetics - 1 Jul 1999

Braverman N, Lin P, Moebius F F, Obie C, Moser A, Glossmann H, Wilcox W R, Rimoin D L, Smith M, Kratz L, Kelley R I, Valle D

Abstract excerpt

X-linked dominant Conradi-Hünermann syndrome (CDPX2; MIM 302960) is one of a group of disorders with aberrant punctate calcification in cartilage, or chondrodysplasia punctata (CDP). This is most prominent around the vertebral column, pelvis and long bones in CPDX2. Additionally, CDPX2 patients may have asymmetric rhizomesomelia, sectorial cataracts, patchy alopecia, ichthyosis and atrophoderma. The phenotype in...

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Identifiers

PMID: 10391219
DOI: 10.1038/10357

Genes

EBP

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.PMID 10391219Read ↗

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

The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome.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 ↗

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 ↗

Molecular prenatal diagnosis in a case of an 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 ↗

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

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

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

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

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

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

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