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Quoted phrase not found in phrase index: "TAKAO VCF SYNDROME"
Page 1
Role of TBX1 in human del22q11.2 syndrome.
Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R. Yagi H, et al. Lancet. 2003 Oct 25;362(9393):1366-73. doi: 10.1016/s0140-6736(03)14632-6. Lancet. 2003. PMID: 14585638
BACKGROUND: Del22q11.2 syndrome is the most frequent known chromosomal microdeletion syndrome, with an incidence of 1 in 4000-5000 livebirths. ...We identified three mutations of TBX1 in two unrelated patients without the 22q11.2 deletion-one with sporadic conotrunc …
BACKGROUND: Del22q11.2 syndrome is the most frequent known chromosomal microdeletion syndrome, with an incidence of 1 in 4000- …
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
Binenbaum G, McDonald-McGinn DM, Zackai EH, Walker BM, Coleman K, Mach AM, Adam M, Manning M, Alcorn DM, Zabel C, Anderson DR, Forbes BJ. Binenbaum G, et al. Am J Med Genet A. 2008 Apr 1;146A(7):904-9. doi: 10.1002/ajmg.a.32156. Am J Med Genet A. 2008. PMID: 18324686 Free PMC article.
Reported ocular findings in the 22q11.2 deletion syndrome (which encompasses the phenotypes of DiGeorge, velocardiofacial, and Takao (conotruncal-anomaly-face) syndromes) have included posterior embryotoxon (prominent, anteriorly displaced Schwalbe's line at …
Reported ocular findings in the 22q11.2 deletion syndrome (which encompasses the phenotypes of DiGeorge, velocardiofacial, and …