CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome.
Córdova-Fletes C, Rademacher N, Müller I, Mundo-Ayala JN, Morales-Jeanhs EA, García-Ortiz JE, León-Gil A, Rivera H, Domínguez MG, Kalscheuer VM.
Córdova-Fletes C, et al. Among authors: rivera h.
Clin Genet. 2010 Jan;77(1):92-6. doi: 10.1111/j.1399-0004.2009.01286.x. Epub 2009 Oct 5.
Clin Genet. 2010.
PMID: 19807736
No abstract available.