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A constitutional 5q23 deletion.
Rivera H, Simi P, Rossi S, Pardelli L, Di Paolo MC. Rivera H, et al. Among authors: simi p. J Med Genet. 1990 Apr;27(4):267-8. doi: 10.1136/jmg.27.4.267. J Med Genet. 1990. PMID: 2325108 Free PMC article.
Acro-cardio-facial syndrome: a microdeletion syndrome?
Toschi B, Valetto A, Bertini V, Congregati C, Cantinotti M, Assanta N, Simi P. Toschi B, et al. Among authors: simi p. Am J Med Genet A. 2012 Aug;158A(8):1994-9. doi: 10.1002/ajmg.a.35444. Epub 2012 Jun 27. Am J Med Genet A. 2012. PMID: 22740423
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