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Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.
Flex, Elisabetta; Ciolfi, Andrea; Caputo, Viviana; Fodale, Valentina; Leoni, Chiara; Melis, Daniela; Bedeschi, Maria Francesca; Mazzanti, Laura; Pizzuti, Antonio; Tartaglia, Marco; Zampino, Giuseppe.
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  • Flex E; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superioredi Sanità, Rome, Italy.
J Med Genet ; 50(8): 493-9, 2013 Aug.
Article in En | MEDLINE | ID: mdl-23687348
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Eye Abnormalities / Limb Deformities, Congenital / Ubiquitin-Protein Ligases / Intellectual Disability / Microcephaly Type of study: Etiology_studies Limits: Child / Female / Humans / Male Language: En Journal: J Med Genet Year: 2013 Type: Article Affiliation country: Italy
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Eye Abnormalities / Limb Deformities, Congenital / Ubiquitin-Protein Ligases / Intellectual Disability / Microcephaly Type of study: Etiology_studies Limits: Child / Female / Humans / Male Language: En Journal: J Med Genet Year: 2013 Type: Article Affiliation country: Italy