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Results 1 - 3 of 3 for Cornelia de Lange syndrome 4
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  1. Cornelia de Lange syndrome 
    ... de Lange syndrome 3 Genetic Testing Registry: Cornelia de Lange syndrome 4 Genetic Testing Registry: Cornelia de Lange syndrome 5 ... WITH OR WITHOUT MIDLINE BRAIN DEFECTS; CDLS3 CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; CDLS4 PubMed ...
    https://medlineplus.gov/.../condition/cornelia-de-lange-syndrome - Genetics
  2. SMC3 gene 
    ... mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub ...
    https://medlineplus.gov/genetics/gene/smc3 - Genetics
  3. NIPBL gene 
    ... NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet. 2004 Oct;75(4):610-23. doi: 10.1086/424698. Epub 2004 ...
    https://medlineplus.gov/genetics/gene/nipbl - Genetics