Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.

R, Matsuoka; A, Takao; M, Kimura; S, Imamura; C, Kondo; K, Joh-o; K, Ikeda; M, Nishibatake; M, Ando; K, Momma

doi:10.1002/ajmg.1320530314

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Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.

Shared by NobleBlocks on Nov 1, 1994 • 12:00 AM UTC

Authors:

Matsuoka R

Takao A

Kimura M

Abstract

The so-called "conotruncal anomaly face syndrome" (CTAFS) is characterized by a peculiar facial appearance associated with congenital heart disease (CHD), especially cardiac outflow tract defects such as tetralogy of Fallot (TOF), double outlet right ventricle (DORV), and truncus arteriosus (TAC). C...

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