Novel TGFBR2 variant E431K disrupts TGF-beta signalling in Loeys-Dietz syndrome case
What does a single genetic change reveal about a rare heart condition?
A case report of a patient with syndromic aortopathy characterized a novel TGFBR2 kinase domain variant (E431K).
A single new DNA change in a patient's heart gene confirmed a rare disorder by disrupting a vital cellular communication system that control…
