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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 2020, Vol.28 (SUPPL 1), p.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: Article
Language:English
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ISSN:1018-4813
1476-5438