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Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

BACKGROUND: Kaufman oculocerebrofacial syndrome (KOS) is a developmental disorder characterised by reduced growth, microcephaly, ocular anomalies (microcornea, strabismus, myopia, and pale optic disk), distinctive facial features (narrow palpebral fissures, telecanthus, sparse and laterally broad ey...

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Detalles Bibliográficos
Autores principales:	Flex, Elisabetta, Ciolfi, Andrea, Caputo, Viviana, Fodale, Valentina, Leoni, Chiara, Melis, Daniela, Bedeschi, Maria Francesca, Mazzanti, Laura, Pizzuti, Antonio, Tartaglia, Marco, Zampino, Giuseppe
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2013
Materias:	New Disease Loci
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3717725/ https://www.ncbi.nlm.nih.gov/pubmed/23687348 http://dx.doi.org/10.1136/jmedgenet-2012-101405

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