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These sources were used to develop the Genetics Home Reference
on L1 syndrome.
Finckh U, Schröder J, Ressler B, Veske A, Gal A. Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. Am J Med Genet. 2000 May 1;92(1):40-6.
Hübner CA, Utermann B, Tinschert S, Krüger G, Ressler B, Steglich C, Schinzel A, Gal A. Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing. Hum Mutat. 2004 May;23(5):526.
Kanemura Y, Okamoto N, Sakamoto H, Shofuda T, Kamiguchi H, Yamasaki M. Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus. J Neurosurg. 2006 Nov;105(5 Suppl):403-12.
Reid E. Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. J Med Genet. 2003 Feb;40(2):81-6. Review.
Soderblom C, Blackstone C. Traffic accidents: molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias. Pharmacol Ther. 2006 Jan;109(1-2):42-56. Epub 2005 Jul 7. Review.
Weller S, Gärtner J. Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. Hum Mutat. 2001;18(1):1-12. Review.
Reviewed: March 2008
Published: March 10, 2014
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