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

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Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.

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Publikováno v: Molecular Vision; 2016, Vol. 22, p1-9, 9p

Syndromes of hearing loss associated with visual loss.

Autor: Abou-Elhamd, Kamal, ElToukhy, Hesham, Al-Wadaani, Fahad

Publikováno v: European Archives of Oto-Rhino-Laryngology; Apr2014, Vol. 271 Issue 4, p635-646, 12p

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome.

Autor: Dupont, Céline, Baumann, Clarisse, Le Du, Nathalie, Schaefer, Elise, Guimiot, Fabien, Boutaud, Lucile, Capri, Yline, Spaggiari, Emmanuel, Aboura, Azzedine, Benzacken, Brigitte, Tabet, Anne‐Claude

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