Work

Netherton Syndrome with Extensive Skin Peeling and Failure to Thrive due to a Homozygous Frameshift Mutation in SPINK5

Year: 2005

Type: article

Study design: Case Report

Source: Dermatology

DOI: 10.1159/000084755

Authors: Adam S. Geyer, Paulina Ratajczak, Marlyanne Pol-Rodriguez, William S. Millar, Maria Garzon, Gabriele Richard

Institutions: Columbia University Irving Medical Center, Columbia University, Thomas Jefferson University

Language: English

Topic: Skin and Cellular Biology Research

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases

Awards: G1129106126, G2365588231, CONNEXINS AND THEIR ROLE IN EPIDERMAL DIFFERENTIATION, G4729662580, CLINICAL AND GENETIC STUDIES OF NETHERTON SYNDROME, Program Project Grant

OpenAlex ID: W2084045070

FWCI: 0.544

Cites: 44

Cited by: 19

Related to: 10