Background Hereditary angioedema (HAE) is a rare disease characterized by recurrent
attacks of severe swellings of the skin and submucosa. More than 900 variants of the …

Background Phenylketonuria (PKU) is a common, autosomal recessive inborn error of
metabolism caused by PAH gene variants. After routine genetic analysis methods were …

Systematics is described for annotation of variations in RNA molecules. The conceptual
framework is part of Variation Ontology (VariO) and facilitates depiction of types of variations …

Background Hereditary angioedema (HAE) due to C1-inhibitor (C1-INH) deficiency (C1-INH-
HAE) is a rare autosomal dominant disorder, characterized by recurrent, unpredictable …

Hereditary angioedema (HAE) poses diagnostic challenges due to its episodic, non-specific
symptoms and overlapping conditions. This study focuses on the genetic basis of HAE …

To the editor: Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) is
generally diagnosed on the basis of clinical and biochemical findings. However, SERPING1 …

Hereditary angioedema (HAE) is a rare genetic disorder with variable expressivity even in
carriers of the same underlying genetic defect, suggesting other genetic and epigenetic …

A type 3 von Willebrand disease (VWD) index patient (IP) remains mutation-negative after
completion of the conventional diagnostic analysis, including multiplex ligation-dependent …

Background Hereditary angioedema is a rare genetic condition caused by C1 esterase
inhibitor deficiency, dysfunction, or kinin cascade dysregulation, leading to an increased …

Angioedema is an ambiguous term. It defines a clinical phenotype characterized by
localized and self-limiting edema of the subcutaneous and submucosal tissue caused by a …