A new case of Kaufman Oculocerebrofacial Syndrome caused by two new splicing variants in UBE3B

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Bibliographic Details
Published in:	European journal of human genetics : EJHG Vol. 28; no. SUPPL 1; pp. 366 - 367
Main Authors:	Uguen, K., Ka, C., Planes, M., Audebert-Bellanger, S., Redon, S., Benech, C., Kury, S., Peudenier, S., Autret, S., Gourlaouen, I., Bonneau, D., Odent, S., Bezieau, S., Gilbert-Dussardier, B., Boland, A., Deleuze, J., Le Marechal, C., Le Gac, G., Ferec, C.
Format:	Journal Article
Language:	English
Published:	Nature Publishing Group 2020
Subjects:	Life Sciences
Online Access:	Get full text
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ISSN:	1018-4813 1476-5438