A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature
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| Auteurs | Couloigner L, Planes M, Ka C, Audebert-Bellanger S, Redon S, Benech C, Rouault K, Kury S, Peudenier S, Autret S, Gourlaouen I, Bonneau D, Odent S, Bezieau S, Gilbert-Dussardier B, Toutain A, Boland A, Deleuze JF, Le Marechal C, Le Gac G, Ferec C and Uguen K |
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| Année | 2,023 |
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| Institut | JACOB |
| url DOI | 10.1111/cge.14270 |