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Article

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

Journal of medical genetics - 1 Aug 2013

Flex Elisabetta, Ciolfi Andrea, Caputo Viviana, Fodale Valentina, Leoni Chiara, Melis Daniela, Bedeschi Maria Francesca, Mazzanti Laura, Pizzuti Antonio, Tartaglia Marco, Zampino Giuseppe

Abstract excerpt

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 eyebrows, preauricular tags, and micrognathia), mental retardation, and generalised hypotonia. KOS is a rare, possibly...

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PMID: 23687348
DOI: 10.1136/jmedgenet-2012-101405
PMCID: PMC3717725

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Source receipt: pubmed, retrieved 7 Sept 2026.

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