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De Lange syndrome
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- Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary ... and range from relatively mild to severe.Cornelia de Lange syndrome is characterized by slow growth before and after ...
- ... 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 ...
- Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia). This ...
- ... CONGENITAL, 1; CCHS1 PubMed Antic NA, Malow BA, Lange N, McEvoy RD, Olson AL, Turkington P, Windisch W, Samuels M, Stevens CA, Berry-Kravis EM, Weese-Mayer DE. PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood. Am J Respir Crit Care ...
- ... Konrad M, Rascher W, Dotsch J, Muller-Wiefel DE, Hoyer P; Study Group ... Alport syndrome delays renal failure and improves life expectancy. Kidney ...
- ... 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): ...
