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

Hoornaert, KP (author)

Vereecke, I (author)

Dewinter, C (author)

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Rosenberg, T (author)

Beemer, FA (author)

Leroy, JG (author)

Bendix, L (author)

Bjorck, E (author)

Karolinska Institutet

Bonduelle, M (author)

Boute, O (author)

Cormier-Daire, V (author)

De Die-Smulders, C (author)

Dieux-Coeslier, A (author)

Dollfus, H (author)

Elting, M (author)

Green, A (author)

Guerci, VI (author)

Hennekam, RCM (author)

Hilhorts-Hofstee, Y (author)

Holder, M (author)

Hoyng, C (author)

Jones, KJ (author)

Josifova, D (author)

Kaitila, I (author)

Kjaergaard, S (author)

Kroes, YH (author)

Lagerstedt, K (author)

Karolinska Institutet

Lees, M (author)

LeMerrer, M (author)

Magnani, C (author)

Marcelis, C (author)

Martorell, L (author)

Mathieu, M (author)

McEntagart, M (author)

Mendicino, A (author)

Morton, J (author)

Orazio, G (author)

Paquis, V (author)

Reish, O (author)

Simola, KOJ (author)

Smithson, SF (author)

Temple, KI (author)

Van Aken, E (author)

Van Bever, Y (author)

van den Ende, J (author)

Van Hagen, JM (author)

Zelante, L (author)

Zordania, R (author)

De Paepe, A (author)

Leroy, BP (author)

De Buyzere, M (author)

Coucke, PJ (author)

Mortier, GR (author)

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 (creator_code:org_t)

2010-02-24

2010

English.

In: European journal of human genetics : EJHG. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 18:8, s. 872-880

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• Journal article (peer-reviewed)