Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
Hoornaert KP; Vereecke I; Dewinter C; Rosenberg T; Beemer FA; Leroy JG; Bendix L; Björck E; Bonduelle M; Boute O; Cormier-Daire V; De Die-Smulders C; Dieux-Coeslier A; Dollfus H; Elting M; Green A; Guerci VI; Hennekam RC; Hilhorts-Hofstee Y; Holder M; Hoyng C; Jones KJ; Josifova D; Kaitila I; Kjaergaard S; Kroes YH; Lagerstedt K; Lees M; Lemerrer M; Magnani C; Marcelis C; Martorell L; Mathieu M; McEntagart M; Mendicino A; Morton J; Orazio G; Paquis V; Reish O; Simola KO; Smithson SF; Temple KI; Van Aken E; Van Bever Y; van den Ende J; Van Hagen JM; Zelante L; Zordania R; De Paepe A; Leroy BP; De Buyzere M; Coucke PJ; Mortier GR; European Journal Of Human Genetics: EJHG, 2010, vol. 18, issue 8, p 872, ISSN 14765438. ISBN 14765438.

Full Text Resources Located for this Citation

View article on EBSCOhost(Login required)
View article via CrossRef