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

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

Risultato della ricerca: Contributo in rivistaArticolo in rivista

32 Citazioni (Scopus)

Abstract

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 underestimated condition, with fewer than 10 cases reported to date. Here we investigate the molecular cause underlying KOS.
Lingua originaleEnglish
pagine (da-a)493-499
Numero di pagine7
RivistaEJMG
Volume50
DOI
Stato di pubblicazionePubblicato - 2013

Keywords

  • Base Sequence
  • Child
  • Clinical genetics
  • Developmental
  • Diagnosis
  • Exome
  • Eye Abnormalities
  • Facies
  • Female
  • Genome-wide
  • Homozygote
  • Humans
  • Intellectual Disability
  • Limb Deformities, Congenital
  • Male
  • Microcephaly
  • Molecular Sequence Data
  • Molecular genetics
  • Mutation
  • Pedigree
  • Ubiquitin-Protein Ligases

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