Chantal Dewinter

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

G. Mortier, D. Rimoin, A. Zankl, 2005, Journal of Medical Genetics.

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

A. Green, I. Kaitila, R. Hennekam, 2010, European Journal of Human Genetics.