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Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene

L. Faivre 1, 2, 3, 4, 5 Clothilde Esteve 6 L. Francescatto P. L. Tan A. Bourchany C. Delafoulhouze E. Marinier Patrice Bourgeois 6, 7 C. Brochier-Armanet 8 A. Bruel 4 A. Delarue Y. Duffourd 1, 3, 4 E. Ecochard-Dugelay O. Goulet 9, 10, 11 P. Gauchez E. Gonzales C. Guettier-Bouttier F. Huet 12 M. Komutora G. Hery Caroline Lacoste 6, 7 R. Maudinas 13 K. Mazodier Y. Rimet Jérôme Rivière 14 B. Roquelaure J. Sarles 15 Sabine Sigaudy 6, 7 E. Savajols X. Stephenne C. Thauvin-Robinet 2, 3, 4, 5 J. Thevenon 4, 16, 2, 3 Nicolas Levy 6, 17 Catherine Badens 6 J. Hugot N. Katsanis Alexandre Fabre 6, 7
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https://hal-amu.archives-ouvertes.fr/hal-02461437
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Submitted on : Thursday, January 30, 2020 - 4:34:47 PM
Last modification on : Wednesday, August 19, 2020 - 12:08:18 PM

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  • HAL Id : hal-02461437, version 1

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L. Faivre, Clothilde Esteve, L. Francescatto, P. L. Tan, A. Bourchany, et al.. Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene. European journal of human genetics, 2019, 27 (1), pp.795-796. ⟨hal-02461437⟩

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