共 257 条
[11]
Murphy P(2001)Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice Nature 410 97-291
[12]
Puri P(2012)Identification of a Tbx1/Tbx2/Tbx3 genetic pathway governing pharyngeal and arterial pole morphogenesis Hum Mol Genet 21 1217-390
[13]
Hajduk P(2001)DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1 Nat Genet 27 286-1156
[14]
Sato H(1996)Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development Dev Dyn 206 379-342
[15]
Puri P(2008)Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review Pediatr Surg Int 24 1153-245
[16]
Murphy P(2011)CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype J Med Genet 48 334-51
[17]
Papaioannou VE(2013)More clinical overlap between 22q11.2 deletion syndrome and charge syndrome than often anticipated Mol Syndromol 4 235-13
[18]
Silver LM(1991)VATER and hydrocephalus: distinct syndrome? Am J Med Genet 38 46-390
[19]
van der Bom T(2003)Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome J Med Genet 40 e62-1234
[20]
Zomer AC(2011)De novo microduplication at 22q11.21 in a patient with VACTERL association Eur J Med Genet 54 9-411