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European Journal of Human Genetics (2006) 14, 1321. doi:10.1038/sj.ejhg.5201745

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

Solange Heuertz, Martine Le Merrer, Bernhard Zabel, Michael Wright, Laurence Legeai-Mallet, Valérie Cormier-Daire, Linda Gibbs and Jacky Bonaventure

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