Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

Lina Basel-Vanagaite, Rüstem Yilmaz, Sha Tang, Miriam S. Reuter, Nils Rahner, Dorothy K. Grange, Megan Mortenson, Patrick Koty, Heather Feenstra, Kelly D. Farwell Gonzalez, Heinrich Sticht, Nathalie Boddaert, Julie Désir, Kwame Anyane-Yeboa, Christiane Zweier, André Reis, Christian Kubisch, Tamison Jewett, Wenqi Zeng, Guntram Borck

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Medicine & Life Sciences