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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Bibliografiska uppgifter
Huvudupphovsmän: Flex, Elisabetta, Ciolfi, Andrea, Caputo, Viviana, Fodale, Valentina, Leoni, Chiara, Melis, Daniela, Bedeschi, Maria Francesca, Mazzanti, Laura, Pizzuti, Antonio, Tartaglia, Marco, Zampino, Giuseppe
Materialtyp: Artigo
Språk:Inglês
Publicerad: BMJ Publishing Group 2013
Ämnen:
New Disease Loci
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3717725/
https://ncbi.nlm.nih.gov/pubmed/23687348
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-101405
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