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Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.
Am J Hum Genet. 2004 Dec;75(6):1149-54. doi: 10.1086/426460.
Am J Hum Genet. 2004.
PMID: 15499549
Free PMC article.
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.
Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kübart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gécz J.
Kalscheuer VM, et al.
Am J Hum Genet. 2003 Jun;72(6):1401-11. doi: 10.1086/375538. Epub 2003 May 7.
Am J Hum Genet. 2003.
PMID: 12736870
Free PMC article.
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