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
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