title: A second report of p.Pro986Leu variant in COL2A1-phenotypic overlap with SEDC and other forms of type II collagenopathies.
authors.forename: Brian H Y
authors.initials: BH
authors.lastname: Chung
authors.forename: Ho-ming
authors.initials: HM
authors.lastname: Luk
authors.forename: Ivan F M
authors.initials: IF
authors.lastname: Lo
authors.forename: Stephen T S
authors.initials: ST
authors.lastname: Lam
authors.forename: Raymond H W
authors.initials: RH
authors.lastname: Li
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D019943:Amino Acid Substitution; D024043:Collagen Type II / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D014644:Genetic Variation; D006801:Humans; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II