Publication | Open Access

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

Mendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsPathogenesisGenetic EpidemiologyCol2a1 MutationsPathologyGenotype–phenotype CorrelationDisease Gene IdentificationMedicineStickler SyndromeClinical GeneticsConnective Tissue Disease