Work

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

Year: 1990

Type: article

Study design: Case Report

Source: PubMed

Authors: D H Cohn, B J Starman, B Blumberg, P H Byers

Institution: Cedars-Sinai Medical Center

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

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: INTERDISCIPLINARY BASIC RESEARCH IN DERMATOLOGY, THE MOLECULAR BASIS OF OSTEOGENESIS IMPERFECTA, CENTER FOR INHERITED DISEASES

OpenAlex ID: W230396661

FWCI: 11.92

Cites: 36

Cited by: 168

Related to: 10