Work

Genetic Heterogeneity in Erythrokeratodermia Variabilis: Novel Mutations in the Connexin Gene GJB4 (Cx30.3) and Genotype-Phenotype Correlations

Year: 2003

Type: article

Study design: Observational Study

Source: Journal of Investigative Dermatology

DOI: 10.1046/j.1523-1747.2003.12080.x

Authors: Gabriele Richard, Nkecha Brown, Fatima Rouan, Carmen Campanelli, Jouni Uitto, Jan-Gerrit Van der Schroeff, Emilia Bijlsma, Lawrence F. Eichenfield, Virginia P. Sybert, Kenneth E. Greer, Peter Hogan, John G. Compton, Sherri J. Bale, John J. DiGiovanna

Institutions: Thomas Jefferson University, Bronovo Hospital, Juliana Kinderziekenhuis, University of Amsterdam, University of California San Diego, Rady Children's Hospital-San Diego, University of Washington, University of Virginia Medical Center, University of Virginia, The University of Sydney, Children's Hospital at Westmead, National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Brown University, Rhode Island Hospital

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: National Institute of Arthritis and Musculoskeletal and Skin Diseases

Awards: G1238136455, G1991966960, CONNEXINS AND THEIR ROLE IN EPIDERMAL DIFFERENTIATION, Program Project Grant

OpenAlex ID: W2124168529

FWCI: 4.243

Cites: 37

Cited by: 130

Related to: 10