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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
The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.
McDonald-McGinn DM, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Wang P, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming JE, Driscoll D, Clark BJ 3rd, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, Emanuel BS, Zackai EH. McDonald-McGinn DM, et al. Genet Test. 1997;1(2):99-108. doi: 10.1089/gte.1997.1.99. Genet Test. 1997. PMID: 10464633
308 results