Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

European journal of human genetics : EJHG - 1 Dec 2018

Pacault Mathilde, Vincent Marie, Besnard Thomas, Kannengiesser Caroline, Bénéteau Claire, Barbarot Sébastien, Latypova Xénia, Belabbas Khaldia, Lamazière Antonin, Winer Norbert, Joubert Madeleine, Bézieau Stéphane, Isidor Bertrand, Mercier Sandra, Nizon Mathilde, Leclerc-Mercier Stéphanie, Hadj-Rabia Smail, Dufernez Fabienne

Abstract excerpt

X-linked dominant chondrodysplasia punctata (CDPX2 or Conradi-Hünermann-Happle syndrome, MIM #302960) is caused by mutations in the EBP gene. Affected female patients present with Blaschkolinear ichthyosis, coarse hair or alopecia, short stature, and normal psychomotor development. The disease is usually lethal in boys. Nevertheless, few male patients have been reported; they carry a somatic mosaicism in EBP or...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aborted Fetus
Share to Chondrodysplasia Punctata

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to EBP gene

Share to Mutation

Share to Pedigree

Share to Phenotype

Share to RNA Splicing

Share to Steroid Isomerases

Source

Open in PubMed Open full text

Identifiers

PMID: 30135486
DOI: 10.1038/s41431-018-0217-0
PMCID: PMC6244079

Genes

EBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.PMID 30135486Read ↗

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 ↗

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

Reduced penetrance 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 ↗

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 ↗

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 ↗

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

Retrotransposition disrupting EBP in a girl and her mother 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 ↗

Conradi-Hünermann-Happle syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.