Associated Papers
Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome.
Li Q et al.
Scientific Reports, 2020
Germline mosaicism in Cornelia de Lange syndrome.
Slavin TP et al.
American Journal of Medical Genetics. Part A, 2012
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.
Kaur M et al.
American Journal of Medical Genetics. Part A, 2005
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
Gillis LA et al.
American Journal of Human Genetics, 2004
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
Krantz ID et al.
Nature Genetics, 2004
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