Work

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

Year: 1993

Type: article

Study design: Case Report

Source: Nature Genetics

DOI: 10.1038/ng0493-323

Authors: Andreas Winterpacht, Matthias Hilbert, Ulrike Schwarze, Stefan Mundlos, Jürgen Spranger, Bernhard U. Zabel

Institution: Johannes Gutenberg University Mainz

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

OpenAlex ID: W1992183841

FWCI: 7.928

Cites: 24

Cited by: 180

Related to: 10