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} AuthorId : 442747
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  Clothilde Esteve ⁶ AuthorId : 11743747
Author IdHAL : clothilde-esteve ORCID : https://orcid.org/0000-0001-9369-4168

  L. Francescatto AuthorId : 11742334
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  P. L. Tan AuthorId : 11742335
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  A. Bourchany AuthorId : 11742336
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  C. Delafoulhouze AuthorId : 11742337
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  E. Marinier AuthorId : 724501
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  Patrice Bourgeois ^{6, 7} AuthorId : 1443313
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  C. Brochier-Armanet ⁸ AuthorId : 443330
Author IdHAL : celine-brochier-armanet ORCID : https://orcid.org/0000-0003-4669-3589

  A. Bruel ⁴ AuthorId : 795758
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  A. Delarue AuthorId : 11742338
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  Y. Duffourd ^{1, 3, 4} AuthorId : 1695520
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  E. Ecochard-Dugelay AuthorId : 11742339
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  O. Goulet ^{9, 10, 11} AuthorId : 185867
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  P. Gauchez AuthorId : 11742340
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  E. Gonzales AuthorId : 42197
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  C. Guettier-Bouttier AuthorId : 11742341
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  F. Huet ¹² AuthorId : 78324
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  M. Komutora AuthorId : 11742342
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  G. Hery AuthorId : 1480208
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  Caroline Lacoste ^{6, 7} AuthorId : 98033
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  R. Maudinas ¹³ AuthorId : 1416679
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  K. Mazodier AuthorId : 11191742
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  Y. Rimet AuthorId : 11742343
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  Jérôme Rivière ¹⁴ AuthorId : 1152730
Author Employer institution : Université de La Réunion

  B. Roquelaure AuthorId : 11261666
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  J. Sarles ¹⁵ AuthorId : 1500230
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  Sabine Sigaudy ^{6, 7} AuthorId : 1598194
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  E. Savajols AuthorId : 11742344
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  X. Stephenne AuthorId : 11252629
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  C. Thauvin-Robinet ^{2, 3, 4, 5} AuthorId : 749083
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  J. Thevenon ^{4, 16, 2, 3} AuthorId : 11152622
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  Nicolas Levy ^{6, 17} AuthorId : 1664222
Author IdHAL : nicolas-levy

  Catherine Badens ⁶ AuthorId : 538544
Author IdHAL : catherine-badens ORCID : https://orcid.org/0000-0001-9024-310X

  J. Hugot AuthorId : 11742345
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  N. Katsanis AuthorId : 124749
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  Alexandre Fabre ^{6, 7} AuthorId : 869121
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