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
Author

  Clothilde Esteve ⁶ AuthorId : 11743747

Author IdHAL : clothilde-esteve ORCID : https://orcid.org/0000-0001-9369-4168

  L. Francescatto AuthorId : 11742334
Author

  P. L. Tan AuthorId : 11742335
Author

  A. Bourchany AuthorId : 11742336
Author

  C. Delafoulhouze AuthorId : 11742337
Author

  E. Marinier AuthorId : 724501
Author

  Patrice Bourgeois ^{6, 7} AuthorId : 1443313
Author

  C. Brochier-Armanet ⁸ AuthorId : 443330

Author IdHAL : celine-brochier-armanet ORCID : https://orcid.org/0000-0003-4669-3589

  A. Bruel ⁴ AuthorId : 795758
Author

  A. Delarue AuthorId : 11742338
Author

  Y. Duffourd ^{1, 3, 4} AuthorId : 1695520
Author

  E. Ecochard-Dugelay AuthorId : 11742339
Author

  O. Goulet ^{9, 10, 11} AuthorId : 185867
Author

  P. Gauchez AuthorId : 11742340
Author

  E. Gonzales AuthorId : 42197
Author

  C. Guettier-Bouttier AuthorId : 11742341
Author

  F. Huet ¹² AuthorId : 78324
Author

  M. Komutora AuthorId : 11742342
Author

  G. Hery AuthorId : 1480208
Author

  Caroline Lacoste ^{6, 7} AuthorId : 98033
Author

  R. Maudinas ¹³ AuthorId : 1416679
Author

  K. Mazodier AuthorId : 11191742
Author

  Y. Rimet AuthorId : 11742343
Author

  Jérôme Rivière ¹⁴ AuthorId : 1152730

Author Employer institution : Université de La Réunion

  B. Roquelaure AuthorId : 11261666
Author

  J. Sarles ¹⁵ AuthorId : 1500230
Author

  Sabine Sigaudy ^{6, 7} AuthorId : 1598194
Author

  E. Savajols AuthorId : 11742344
Author

  X. Stephenne AuthorId : 11252629
Author

  C. Thauvin-Robinet ^{2, 3, 4, 5} AuthorId : 749083
Author

  J. Thevenon ^{4, 16, 2, 3} AuthorId : 11152622
Author

  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
Author

  N. Katsanis AuthorId : 124749
Author

  Alexandre Fabre ^{6, 7} AuthorId : 869121
Author