A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita

Type II Collagen Gene Variants and Inherited Osteonecrosis of the Femoral Head

Yu-Fen Liu, Wei‐Ming Chen, Yung‐Feng Lin et al. · New England Journal of Medicine · 2005 · 188 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Sedlin Controls the ER Export of Procollagen by Regulating the Sar1 Cycle

Rossella Venditti, Tiziana Scanu, Michele Santoro et al. · Science · 2012 · 173 citations

Life Sciences, Cell Biology, Molecular Biology +17

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

Kristien Hoornaert, Inge Vereecke, Chantal Dewinter et al. · European Journal of Human Genetics · 2010 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

Pia Hermanns, Sheila Unger, Antonio Rossi et al. · The American Journal of Human Genetics · 2008 · 106 citations · Full text

Medicine, Genetics, Orthopaedic Surgery +16

Somatic mosaicism and the phenotypic expression of <i>COL2A1</i> mutations

Sonali Nagendran, Allan J. Richards, Annie McNinch et al. · American Journal of Medical Genetics Part A · 2012 · 40 citations

Life Sciences, Genetics, Molecular Genetics +17