NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations

Eitemau Tebyg

• Precocious Sister Chromatid Separation (PSCS) in Cornelia de Lange Syndrome
  gan: Kaur, Maninder, et al.
  Cyhoeddwyd: (2005)
• Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
  gan: Krantz, Ian D, et al.
  Cyhoeddwyd: (2004)
• Chromosome Rearrangements in Cornelia de Lange Syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in Two Half Sibs With Features of CdLS and Review of Reported CdLS Cases With Chromosome Rearrangements
  gan: DeScipio, Cheryl, et al.
  Cyhoeddwyd: (2005)
• Congenital Heart Disease in Cornelia de Lange Syndrome: Phenotype and Genotype Analysis
  gan: Chatfield, Kathryn C., et al.
  Cyhoeddwyd: (2012)
• Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction
  gan: Braunholz, Diana, et al.
  Cyhoeddwyd: (2012)