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

Autor: Hoornaert KP; Center for Medical Genetics, Ghent University Hospital, Gent, Belgium. [corrected], 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

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2010 Aug; Vol. 18 (8), pp. 872-80. Date of Electronic Publication: 2010 Feb 24.