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Article

Mutation analysis of <i>TBX1</i> in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects

1 Dec 2001

Abstract excerpt

Editor—Microdeletions of chromosomal region 22q11.2 (del22q11) have been associated with several genetic disorders, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face syndrome (CTAFS).1 The major clinical features associated with del22q11 are conotruncal heart defects, hypoplastic or aplastic thymus and parathyroid glands, facial dysmorphism, and learning...

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Identifiers

PMID: 11748311
DOI: 10.1136/jmg.38.12.e45

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