Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections by Pannu Hariyadarshi, Fadulu Van Tran, Chang Jessica, Lafont Andrea, Hasham Sumera N, Sparks Elizabeth, Giampietro Philip F, Zaleski Christina, Estrera Anthony L, Safi Hazim J, Shete Sanjay, Willing Marcia C, Raman C S, Milewicz Dianna M in Circulation (2005).

[PMID: 16027248] PubMed


A genetic predisposition for progressive enlargement of thoracic aortic aneurysms leading to type A dissection (TAAD) is inherited in an autosomal-dominant manner in up to 19% of patients, and a number of chromosomal loci have been identified for the condition. Having mapped a TAAD locus to 3p24-25, we sequenced the gene for transforming growth factor-beta receptor type II (TGFBR2) to determine whether mutations in this gene resulted in familial TAAD.

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