Publication
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
Human Genetics, March 2014, Springer Science + Business Media
DOI: 10.1007/s00439-014-1436-2