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Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE; International Chromosome 22q11.2 Consortium. Herman SB, et al. Among authors: swillen a. Am J Med Genet A. 2012 Nov;158A(11):2781-7. doi: 10.1002/ajmg.a.35512. Epub 2012 Oct 3. Am J Med Genet A. 2012. PMID: 23034814 Free PMC article.
Renal and urological tract malformations caused by a 22q11 deletion.
Devriendt K, Swillen A, Fryns JP, Proesmans W, Gewillig M. Devriendt K, et al. Among authors: swillen a. J Med Genet. 1996 Apr;33(4):349. doi: 10.1136/jmg.33.4.349. J Med Genet. 1996. PMID: 8730297 Free PMC article. No abstract available.
134 results