| Affiliation auteurs | !!!! Error affiliation !!!! |
| Titre | Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene |
| Type de publication | Journal Article |
| Year of Publication | 2019 |
| Auteurs | Faivre L., Esteve C., Francescatto L., Tan P.L, Bourchany A., Delafoulhouze C., Marinier E., Bourgeois P., Brochier-Armanet C., Bruel A., Delarue A., Duffourd Y., Ecochard-Dugelay E., Goulet O., Gauchez P., Gonzales E., Guettier-Bouttier C., Huet F., Komutora M., Hery G., Lacoste C., Maudinas R., Mazodier K., Rimet Y., Riviere J., Roquelaure B., Sarles J., Sigaudy S., Savajols E., Stephenne X., Thauvin-Robinet C., Thevenon J., Levy N., Badens C., Hugot J., Katsanis N., Fabre A. |
| Journal | EUROPEAN JOURNAL OF HUMAN GENETICS |
| Volume | 27 |
| Pagination | 795-796 |
| Date Published | JUL |
| Type of Article | Meeting Abstract |
| ISSN | 1018-4813 |
