Ontology highlight
ABSTRACT:
SUBMITTER: Zweier C
PROVIDER: S-EPMC1821102 | biostudies-literature | 2007 Mar
REPOSITORIES: biostudies-literature
Zweier Christiane C Sticht Heinrich H Aydin-Yaylagül Inci I Campbell Christine E CE Rauch Anita A
American journal of human genetics 20070118 3
Deletion 22q11.2 syndrome is the most frequent known microdeletion syndrome and is associated with a highly variable phenotype, including DiGeorge and Shprintzen (velocardiofacial) syndromes. Although haploinsufficiency of the T-box transcription factor gene TBX1 is thought to cause the phenotype, to date, only four different point mutations in TBX1 have been reported in association with six of the major features of 22q11.2 deletion syndrome. Although, for the two truncating mutations, loss of f ...[more]