Case Report: Identification of a novel mutation, c.1067T > A, in the SERPING1 gene in a Chinese male with type 1 hereditary angioedema

Abstract excerpt

Hereditary angioedema (HAE) is a rare autosomal dominant genetic disorder characterized by recurrent, unpredictable episodes of angioedema that commonly involve the face, limbs, respiratory tract, and gastrointestinal tract. Clinical presentations vary substantially among individuals, increasing the likelihood of misdiagnosis or missed diagnosis. In severe cases, if not properly managed, laryngeal edema can...

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