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Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M. Doherty ES, et al. Am J Med Genet A. 2007 Dec 15;143A(24):3204-15. doi: 10.1002/ajmg.a.32078. Am J Med Genet A. 2007. PMID: 18000976
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
Interstitial deletion of 4(q21q25) in a liveborn male.
Rose NC, Schneider A, McDonald-McGinn DM, Caserta C, Emanuel BS, Zackai EH. Rose NC, et al. Am J Med Genet. 1991 Jul 1;40(1):77-9. doi: 10.1002/ajmg.1320400115. Am J Med Genet. 1991. PMID: 1887853 Review.
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.
349 results