Article
[PRKAR1A gene mutations in two patients with myxoma syndrome (Carney complex)].
Kardiologiia - 1 Jan 2003
Skamrov A V, Feoktistova E S, Khaspekov G L, Kovalevskiĭ D A, Goriunova L E, Bibilashvili R Sh, Vinnitskiĭ L I, Sheremet'eva G F, Nechaenko M A
Abstract excerpt
Carney complex is an autosomic dominant disorder initially described as the association of cardiac myxomas, spotty skin pigmentation and endocrine overactivity and considered as a multiple neoplasia and lentiginosis syndrome. Mutations in the tumor suppressor gene PRKAR1A, coding for the type 1-alpha regulatory subunit of cAMP-depended protein kinase A have been previously identified in about half of the Carney...
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