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

Lynette A. Gillis(Children's Hospital of Philadelphia), Jennifer McCallum(Children's Hospital of Philadelphia), Maninder Kaur(Children's Hospital of Philadelphia), Cheryl DeScipio(Children's Hospital of Philadelphia), Dinah Yaeger(Children's Hospital of Philadelphia), Allison Mariani(Children's Hospital of Philadelphia), Antonie D. Kline(Greater Baltimore Medical Center), Hui-hua Li(Nemours Children’s Clinic), Marcella Devoto(Nemours Children’s Clinic), Laird G. Jackson(Children's Hospital of Philadelphia), Ian D. Krantz(Children's Hospital of Philadelphia)
The American Journal of Human Genetics
September 12, 2004
10.1086/424698
Cited by 317Open Access
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