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Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up.
Vecchio D, Cocciadiferro D, Macchiaiolo M, Gonfiantini MV, Agolini E, Matraxia M, Carboni A, Coretti A, Villani A, Panfili FM, Dentici ML, Buonuomo PS, Rana I, Colafati GS, Digilio MC, Novelli A, Bartuli A. Vecchio D, et al. Among authors: digilio mc. Clin Genet. 2022 Aug;102(2):142-148. doi: 10.1111/cge.14150. Epub 2022 May 21. Clin Genet. 2022. PMID: 35575217 Free PMC article.
Radial aplasia and chromosome 22q11 deletion.
Digilio MC, Giannotti A, Marino B, Guadagni AM, Orzalesi M, Dallapiccola B. Digilio MC, et al. J Med Genet. 1997 Nov;34(11):942-4. doi: 10.1136/jmg.34.11.942. J Med Genet. 1997. PMID: 9391893 Free PMC article.
Microdeletion 22q11 and oesophageal atresia.
Digilio MC, Marino B, Bagolan P, Giannotti A, Dallapiccola B. Digilio MC, et al. J Med Genet. 1999 Feb;36(2):137-9. J Med Genet. 1999. PMID: 10051013 Free PMC article.
435 results