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Quoted phrase not found in phrase index: "TAKAO VCF SYNDROME"
Page 1
Role of TBX1 in human del22q11.2 syndrome.
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 …
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