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Palatal evaluation and treatment in 22q11.2 deletion syndrome.
Jackson O, Crowley TB, Sharkus R, Smith R, Jeong S, Solot C, McDonald-Mcginn D. Jackson O, et al. Am J Med Genet A. 2019 Jul;179(7):1184-1195. doi: 10.1002/ajmg.a.61152. Epub 2019 Apr 30. Am J Med Genet A. 2019. PMID: 31038278
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.
Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ, Saal HM, Zonana J, Jones MC, et al. Driscoll DA, et al. Am J Med Genet. 1992 Sep 15;44(2):261-8. doi: 10.1002/ajmg.1320440237. Am J Med Genet. 1992. PMID: 1360769
Cerebellar atrophy in a patient with velocardiofacial syndrome.
Lynch DR, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Whitaker LA, Fischbeck KH. Lynch DR, et al. J Med Genet. 1995 Jul;32(7):561-3. doi: 10.1136/jmg.32.7.561. J Med Genet. 1995. PMID: 7562973 Free PMC article.
Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.
McDonald-McGinn DM, Driscoll DA, Bason L, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J. McDonald-McGinn DM, et al. Am J Med Genet. 1995 Oct 23;59(1):103-13. doi: 10.1002/ajmg.1320590122. Am J Med Genet. 1995. PMID: 8849001
350 results