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Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?
Am J Med Genet A. 2008 Aug 1;146A(15):1903-10. doi: 10.1002/ajmg.a.32450.
Am J Med Genet A. 2008.
PMID: 18627067
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.
Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group.
Prattichizzo C, et al.
Hum Mutat. 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792.
Hum Mutat. 2008.
PMID: 18546297
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CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
Del Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B; Oral-Facial-Digital Type I (OFD1) Collaborative Group.
Del Giudice E, et al.
Orphanet J Rare Dis. 2014 May 10;9:74. doi: 10.1186/1750-1172-9-74.
Orphanet J Rare Dis. 2014.
PMID: 24884629
Free PMC article.
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