A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
Couloigner L, Planes M, Ka C, Audebert-Bellanger S, Redon S, Benech C, Rouault K, Küry S, Peudenier S, Autret S, Gourlaouen I, Bonneau D, Odent S, Bézieau S, Gilbert-Dussardier B, Toutain A, Boland A, Deleuze JF, Le Marechal C, Le Gac G, Ferec C, Uguen K.
Couloigner L, et al. Among authors: autret s.
Clin Genet. 2023 Mar;103(3):377-379. doi: 10.1111/cge.14270. Epub 2022 Dec 1.
Clin Genet. 2023.
PMID: 36444497
Review.
No abstract available.