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Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation.
de Billy E, Strocchio L, Cacchione A, Agolini E, Gnazzo M, Novelli A, De Vito R, Capolino R, Digilio MC, Caruso R, Mastronuzzi A, Locatelli F. de Billy E, et al. Among authors: digilio mc. Am J Med Genet A. 2019 Jan;179(1):113-117. doi: 10.1002/ajmg.a.60674. Epub 2018 Dec 20. Am J Med Genet A. 2019. PMID: 30569626
New case of Bartsocas-Papas syndrome surviving at 20 months.
Giannotti A, Digilio MC, Standoli L, Zama M, Dallapiccola B. Giannotti A, et al. Among authors: digilio mc. Am J Med Genet. 1992 Mar 1;42(5):733-5. doi: 10.1002/ajmg.1320420522. Am J Med Genet. 1992. PMID: 1632449
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.
Noonan syndrome and aortic coarctation.
Digilio MC, Marino B, Picchio F, Prandstraller D, Toscano A, Giannotti A, Dallapiccola B. Digilio MC, et al. Am J Med Genet. 1998 Nov 2;80(2):160-2. Am J Med Genet. 1998. PMID: 9805134
435 results