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De Lange syndrome
Did you mean De range syndrome?
- ... gene have been identified in people with Cornelia de Lange syndrome, a developmental disorder that affects many parts of ... of the SMC1A gene variants that cause Cornelia de Lange syndrome change single protein building blocks (amino acids) in ...
- ... gene have been found in people with Cornelia de Lange syndrome, a developmental disorder that affects many parts of ... are the most common known cause of Cornelia de Lange syndrome, accounting for more than half of all cases. ...
- ... SMC3 gene have been found to cause Cornelia de Lange syndrome, a developmental disorder that affects many parts of ... of the SMC3 gene variants that cause Cornelia de Lange syndrome either change single protein building blocks (amino acids) ...
- ... gene have been identified in people with Cornelia de Lange syndrome, a developmental disorder that affects many parts of ... not fully understand how these changes cause Cornelia de Lange syndrome, they suspect that altered gene regulation probably underlies ...
- ... 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 ...
- The KCNE1 gene provides instructions for making a protein that regulates the activity of potassium channels. These channels, which transport positively charged ...
- ... Brugada P, Sachse F, Sanguinetti MC, Brugada R. De novo KCNQ1 mutation ... in the Jervell and Lange-Nielsen syndrome. Cardiovasc Res. 2001 Sep;51(4): ...
- ... Hampel H, Comeras I, Westman JA, Frankel WL, de la Chapelle A. The frequency of Muir-Torre syndrome among Lynch syndrome families. J Natl Cancer Inst. ...
- ... White DM, Hopper JL, Baglietto L, Jenkins MA, de la Chapelle A. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology. 2008 ...
- ... Hampel H, Comeras I, Westman JA, Frankel WL, de la Chapelle A. The frequency of Muir-Torre syndrome among Lynch syndrome families. J Natl Cancer Inst. ...
