Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.

  title={Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.},
  author={Maninder Kaur and Cheryl Descipio and J. Stuart McCallum and Dinah Yaeger and Marcella Devoto and Laird G. Jackson and Nancy B. Spinner and Ian D. Krantz},
  journal={American journal of medical genetics. Part A},
  volume={138 1},
The Cornelia de Lange syndrome (CdLS) (OMIM# 122470) is a dominantly inherited multisystem developmental disorder. The phenotype consists of characteristic facial features, hirsutism, abnormalities of the upper extremities ranging from subtle changes in the phalanges and metacarpal bones to oligodactyly and phocomelia, gastroesophageal dysfunction, growth retardation, and neurodevelopmental delay. Prevalence is estimated to be as high as 1 in 10,000. Recently, mutations in NIPBL were identified… CONTINUE READING
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