Elif Uz Yildirim

c.1681-7 G>A Variant in the Factor XII Gene in a Family Diagnosed with HAE-FXII Does Not Affect Splice Site.

Introduction:Hereditary angioedema (HAE) is a rare, potentially life-threatening genetic condition characterized by recurrent episodes of localized tissue swelling, often affecting the skin, upper respiratory tract, and gastrointestinal system. HAE-FXII, also known as HAE with normal C1 inhibitor (C1INH), has been asso...