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Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

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Description scientific article
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author: Irene Stolte-Dijkstra  Clémentine Mahaut  Patrick Nitschké  Martine Le Merrer  Geert Mortier  Sacha Jensen  Christine Bôle-Feysot  Sheila Unger  Catherine Boileau  Carine Le Goff  Sylvie Odent  Michel Polak  David Geneviève  Valérie Cormier-Daire  Andrea Superti-Furga  Marianne Rohrbach  David Rimoin  Arnold Munnich  Avinash Abhyankar  Jean-Laurent Casanova  Yasemin Alanay  Slimane Allali  Gwenaëlle Collod-Béroud 

Publication date June 16, 2011
Language English
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