Work

Identification of a novel variant of LAMB3 in a patient with a distinct junctional epidermolysis bullosa laryngo-onycho-cutaneous syndrome phenotype

Year: 2024

Type: article

Study design: Case Report

Source: Clinical and Experimental Dermatology

DOI: 10.1093/ced/llae403

Authors: Aashka Suvarnakar, Michelle Schwartz Kahn, Kristina M Derrick, Soodeh Kabir, Sharon A Glick

Institutions: Georgetown University, Maimonides Medical Center, SUNY Downstate Health Sciences 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

OpenAlex ID: W4403514207

FWCI: 0.384

Cites: 7

Cited by: 2

Related to: 10