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Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene

Corinne Collet 1 Jean-Luc Alessandri 2, 3 E. Arnaud 4 M. Balu 3 V. C. Daire 5, 4 F. Di Rocco 4
1 Service de Biochimie et de Biologie Moléculaire
2 Service de Réanimation Néonatale et Pédiatrique
3 CHU La Réunion - Centre Hospitalier Universitaire de La Réunion
4 CHU Necker - Enfants Malades [AP-HP]
5 IMAGINE - U1163 - Imagine - Institut des maladies génétiques
Abstract : no abstract
Keywords : Adult Asparagine Bone Diseases Developmental Child Preschool Craniofacial Dysostosis Female Humans Male Mutation Missense Receptor Fibroblast Growth Factor Type 2 Tyrosine
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Journal articles
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https://hal.univ-reunion.fr/hal-01274553
Contributor : Réunion Univ <>
Submitted on : Tuesday, February 16, 2016 - 8:40:27 AM
Last modification on : Wednesday, August 19, 2020 - 11:17:11 AM

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Corinne Collet, Jean-Luc Alessandri, E. Arnaud, M. Balu, V. C. Daire, et al.. Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene. Clinical Genetics, Wiley, 2014, 85 (6), pp.598--599. ⟨10.1111/cge.12213⟩. ⟨hal-01274553⟩

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