A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa

Sattar, S., Bharadwaj, T., Kalsoom, U.-, Acharya, A., Khan, S., Leal, S. M., & Schrauwen, I. (2025). A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa. BMC Medical Genomics, 18(1). https://doi.org/10.1186/s12920-024-02077-1
Authors:
Saira Sattar
Thashi Bharadwaj
Umm-E- Kalsoom
Anushree Acharya
Saadullah Khan
Suzanne M Leal
Isabelle Schrauwen
Affiliated Authors:
Saira Sattar
Thashi Bharadwaj
Anushree Acharya
Suzanne M Leal
Isabelle Schrauwen
Columbia Affiliation:
Subjects:
Biology and Pathology of Keratins and Related Disorders (OpenAlex Topic)
Integrin Signaling in Inflammation and Cancer (OpenAlex Topic)
Cell Mechanics and Extracellular Matrix Interactions (OpenAlex Topic)
Collagen Type VII (MeSH)
Epidermolysis Bullosa Dystrophica (MeSH)
Pedigree (MeSH)
Genes, Dominant (MeSH)
elink
Publication Type:
Article
Unique ID:
10.1186/s12920-024-02077-1
PMID:
39905456
DOI:
10.1186/s12920-024-02077-1
Journal:
BMC Medical Genomics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View OpenAlex Record
View Web of Science Record

Record Created: