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

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Description scientific article published on 11 March 2014
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author: Lina Basel-Vanagaite  Christian Kubisch  Kwame Anyane-Yeboa  Guntram Borck  Christiane Zweier  André Reis  Dorothy K Grange  Nathalie Boddaert  Julie Désir  Heinrich Sticht 

Publication date March 11, 2014
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