The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1

Ruth M. Liberfarb, Howard P. Levy, Peter S. Rose, Douglas J. Wilkin, Joie Davis, Joan Z. Balog, Andrew J. Griffith, Yvonne M. Szymko-Bennett, Jennifer J. Johnston, Clair A. Francomano

Research output: Contribution to journal › Review article › peer-review

60 Scopus citations

Fingerprint

Dive into the research topics of 'The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1'. Together they form a unique fingerprint.

Biochemistry, Genetics and Molecular Biology

Keyphrases