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Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 8, p. 872, doi. 10.1038/ejhg.2010.23
By:
- Hoornaert, Kristien P.;
- Vereecke, Inge;
- Dewinter, Chantal;
- Rosenberg, Thomas;
- Beemer, Frits A.;
- Leroy, Jules G.;
- Bendix, Laila;
- Björck, Erik;
- Bonduelle, Maryse;
- Boute, Odile;
- Cormier-Daire, Valerie;
- De Die-Smulders, Christine;
- Dieux-Coeslier, Anne;
- Dollfus, Hélène;
- Elting, Mariet;
- Green, Andrew;
- Guerci, Veronica I.;
- Hennekam, Raoul C. M.;
- Hilhorts-Hofstee, Yvonne;
- Holder, Muriel
Publication type:
Article
Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients.
Published in:
2010
By:
- Hoornaert, Kristien P;
- Vereecke, Inge;
- Dewinter, Chantal;
- Rosenberg, Thomas;
- Beemer, Frits A;
- Leroy, Jules G;
- Bendix, Laila;
- Björck, Erik;
- Bonduelle, Maryse;
- Boute, Odile;
- Cormier-Daire, Valerie;
- De Die-Smulders, Christine;
- Dieux-Coeslier, Anne;
- Dollfus, Hélène;
- Elting, Mariet;
- Green, Andrew;
- Guerci, Veronica I;
- Hennekam, Raoul CM;
- Hilhorts-Hofstee, Yvonne;
- Holder, Muriel
Publication type:
Correction Notice
Pseudoxanthoma Elasticum-Like Phenotype with Cutis Laxa and Multiple Coagulation Factor Deficiency Represents a Separate Genetic Entity.
Published in:
Journal of Investigative Dermatology, 2007, v. 127, n. 3, p. 581, doi. 10.1038/sj.jid.5700610
By:
- Vanakker, Olivier M.;
- Martin, Ludovic;
- Gheduzzi, Dealba;
- Leroy, Bart P.;
- Loeys, Bart L.;
- Guerci, Veronica I.;
- Matthys, Dirk;
- Terry, Sharon F.;
- Coucke, Paul J.;
- Pasquali-Ronchetti, Ivonne;
- De Paepe, Anne
Publication type:
Article

Found: 3

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

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

Pseudoxanthoma Elasticum-Like Phenotype with Cutis Laxa and Multiple Coagulation Factor Deficiency Represents a Separate Genetic Entity.