Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

Giuseppe Zampino, Serena Russo, Cristina Gervasini, Chiara Picinelli, Jacopo Azzollini, Daniela Rusconi, Maura Masciadri, Anna Cereda, Cinzia Marzocchi, Angelo Selicorni, Romano Tenconi, Silvia Russo, Lidia Larizza, Palma Finelli

Risultato della ricerca: Contributo in rivistaArticolo in rivista

18 Citazioni (Scopus)

Abstract

Cornelia de Lange syndrome (CdLS) is a rare autosomal-dominant disorder characterised by facial dysmorphism, growth and psychomotor developmental delay and skeletal defects. To date, causative mutations in the NIPBL (cohesin regulator) and SMC1A (cohesin structural subunit) genes account for > 50% and 6% of cases, respectively.
Lingua originaleEnglish
pagine (da-a)41-41
Numero di pagine1
RivistaBMC Medical Genetics
Volume14
DOI
Stato di pubblicazionePubblicato - 2013

Keywords

  • Cell Cycle Proteins
  • Child
  • Chromosomal Proteins, Non-Histone
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 17
  • Chromosomes, Human, Pair 19
  • Chromosomes, Human, Pair 4
  • DNA Copy Number Variations
  • De Lange Syndrome
  • Female
  • Gene Deletion
  • Genomic Instability
  • Humans
  • Male
  • Phenotype
  • Proteins
  • Translocation, Genetic
  • Young Adult

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