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Results 1 - 6 of 6 for Cornelia de Lange syndrome 5
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  1. Cornelia de Lange syndrome 
    ... de Lange syndrome 4 Genetic Testing Registry: Cornelia de Lange syndrome 5 Genetic Testing Registry: De Lange syndrome Cornelia de ... CDLS1 CORNELIA DE LANGE SYNDROME 2; CDLS2 CORNELIA DE LANGE SYNDROME 5; CDLS5 CORNELIA DE LANGE SYNDROME 3 WITH OR ...
    https://medlineplus.gov/.../condition/cornelia-de-lange-syndrome - Genetics
  2. SMC1A gene 
    ... SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome. J Child Neurol. 2022 Apr;37(5):390-396. doi: 10.1177/08830738221081244. Epub 2022 ...
    https://medlineplus.gov/genetics/gene/smc1a - Genetics
  3. NIPBL gene 
    ... AL, Li HH, Devoto M, Jackson LG. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet. 2004 Jun;36(6):631-5. doi: 10.1038/ng1364. Epub 2004 May 16. ...
    https://medlineplus.gov/genetics/gene/nipbl - Genetics
  4. HDAC8 gene 
    ... gene have been identified in people with Cornelia de Lange syndrome, a developmental disorder that affects many parts of the body. Researchers estimate that variants in this gene account for about 5 percent of all cases of this condition.Most ...
    https://medlineplus.gov/genetics/gene/hdac8 - Genetics
  5. SMC3 gene 
    ... and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant ... zebrafish cells. Mol Cancer. 2006 Nov 2;5:52. doi: 10.1186/1476-4598-5-52. ...
    https://medlineplus.gov/genetics/gene/smc3 - Genetics
  6. RAD21 gene 
    ... gene have been identified in people with Cornelia de Lange syndrome, a developmental disorder that affects many parts of ... cause of this condition.Some cases of Cornelia de Lange syndrome have resulted from a deletion that removes a ...
    https://medlineplus.gov/genetics/gene/rad21 - Genetics