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References

These sources were used to develop the Genetics Home Reference condition summary on Silver syndrome.

Cafforio G, Calabrese R, Morelli N, Mancuso M, Piazza S, Martinuzzi A, Bassi MT, Crippa F, Siciliano G. The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation. Neurol Sci. 2008 Jun;29(3):189-91. doi: 10.1007/s10072-008-0937-y. Epub 2008 Jul 9. PubMed citation
Rowland LP, Bird TD. Silver syndrome: The complexity of complicated hereditary spastic paraplegia. Neurology. 2008 May 20;70(21):1948-9. doi: 10.1212/01.wnl.0000312519.62351.5b. PubMed citation
Silver JR. Silver syndrome. BMJ. 2007 Sep 1;335(7617):422-3. PubMed citation
van de Warrenburg BP, Scheffer H, van Eijk JJ, Versteeg MH, Kremer H, Zwarts MJ, Schelhaas HJ, van Engelen BG. BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. Neuromuscul Disord. 2006 Feb;16(2):122-5. Epub 2006 Jan 19. PubMed citation
Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet. 2004 Mar;36(3):271-6. Epub 2004 Feb 22. PubMed citation

Reviewed: February 2012

Published: May 20, 2013