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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
*Corresponding author for this work
- Rabin Medical Center Israel
- Schneider Childrens Medical Center Israel
- Ulm University
- Ambry Genetics
- Friedrich-Alexander University Erlangen-Nürnberg
- Heinrich Heine University Düsseldorf
- Washington University St. Louis
- Wake Forest University
- Continuum Health Partners, Inc.
- Université Paris Cité
- Institute of Pathology and Genetics
- Columbia University
Research output: Contribution to journal › Article › peer-review
30
Scopus
citations