Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

  title={Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual},
  author={J. Wierzba and M. Gil-Rodr{\'i}guez and A. Polucha and B. Puisac and M. Arnedo and M. E. Teresa-Rodrigo and D. Winnicka and F. G. Hegardt and F. Ramos and J. Limon and J. Pi{\'e}},
  journal={BMC Medical Genetics},
  pages={43 - 43}
  • J. Wierzba, M. Gil-Rodríguez, +8 authors J. Pié
  • Published 2012
  • Biology, Medicine
  • BMC Medical Genetics
  • BackgroundCornelia de Lange syndrome (CdLS) is a dominantly inherited disorder characterized by facial dysmorphism, growth and cognitive impairment, limb malformations and multiple organ involvement. [...] Key Result The patient showed a severe form of CdLS with craniofacial dysmorphism, pre- and post-natal growth delay, cardiovascular abnormalities, hirsutism and severe psychomotor retardation with behavioural problems.Expand Abstract
    16 Citations
    Special cases in Cornelia de Lange syndrome: The Spanish experience
    • J. Pié, B. Puisac, +9 authors F. Ramos
    • Medicine
    • American journal of medical genetics. Part C, Seminars in medical genetics
    • 2016
    • 11
    • PDF
    De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes
    • 39
    • PDF
    Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses
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    Ophthalmologic findings in the Cornelia de Lange syndrome
    • 1
    • Highly Influenced
    Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance
    • 3


    Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
    • 614
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    Mutational and genotype–phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome
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    • PDF
    Chromosomes in the Cornelia de Lange syndrome
    • 18
    Cornelia de Lange syndrome, cohesin, and beyond
    • 173
    Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction
    • 30
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    X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
    • 405
    Descriptive epidemiology of Cornelia de Lange syndrome in Europe
    • 71