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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
Nat Genet. 2006 May;38(5):528-30. doi: 10.1038/ng1779. Epub 2006 Apr 9.
Nat Genet. 2006.
PMID: 16604071
In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.
Hoppman-Chaney N, Jang JS, Jen J, Babovic-Vuksanovic D, Hodge JC.
Hoppman-Chaney N, et al.
Am J Med Genet A. 2012 Jan;158A(1):193-8. doi: 10.1002/ajmg.a.34360. Epub 2011 Nov 21.
Am J Med Genet A. 2012.
PMID: 22106055
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