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The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review.
Cocciadiferro D, Agolini E, Digilio MC, Sinibaldi L, Castori M, Silvestri E, Dotta A, Dallapiccola B, Novelli A. Cocciadiferro D, et al. Among authors: silvestri e. Medicine (Baltimore). 2020 Feb;99(8):e19169. doi: 10.1097/MD.0000000000019169. Medicine (Baltimore). 2020. PMID: 32080096 Free PMC article.
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.
Bottillo I, Castori M, De Bernardo C, Fabbri R, Grammatico B, Preziosi N, Scassellati GS, Silvestri E, Spagnuolo A, Laino L, Grammatico P. Bottillo I, et al. Among authors: silvestri e. BMC Res Notes. 2013 Sep 22;6:376. doi: 10.1186/1756-0500-6-376. BMC Res Notes. 2013. PMID: 24053387 Free PMC article.
Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome.
Morlino S, Castori M, Servadei F, Laino L, Silvestri E; Pediatric Craniofacial Malformation (PECRAM) Study Group; Grammatico P. Morlino S, et al. Among authors: silvestri e. Birth Defects Res A Clin Mol Teratol. 2015 Jun;103(6):554-66. doi: 10.1002/bdra.23327. Epub 2014 Oct 31. Birth Defects Res A Clin Mol Teratol. 2015. PMID: 25360518 Review.
407 results