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Article

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

American journal of medical genetics - 2 Oct 2000

Ikegawa S, Ohashi H, Ogata T, Honda A, Tsukahara M, Kubo T, Kimizuka M, Shimode M, Hasegawa T, Nishimura G, Nakamura Y

Abstract excerpt

Chondrodysplasia punctata (CDP) is a heterogeneous group of skeletal dysplasias characterized by stippled epiphyses. A subtype of CDP, X-linked dominant chondrodysplasia punctata (CDPX2), known also as Conradi-Hünermann-Happle syndrome, is a rare skeletal dysplasia characterized by short stature, craniofacial defects, cataracts, ichthyosis, coarse hair, and alopecia. The cause of CDPX2 was unknown until recent...

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Source

Identifiers

PMID: 11038443
DOI: 10.1002/1096-8628(20001002)94:4<300::aid-ajmg7>3.0.co;2-3

Genes

EBP

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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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.PMID 11038443Read ↗

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 ↗

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

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 ↗

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 ↗

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

Retrotransposition disrupting EBP in a girl and her mother with 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 recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.Semantic proximity Read ↗

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