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Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.
It is concluded that enhanced FXII enzymatic plasma activity in female mutation carriers leads to enhanced kinin production, which results in angioedema.
Icatibant, a new bradykinin-receptor antagonist, in hereditary angioedema.
In patients with hereditary angioedema having acute attacks, a significant benefit of icatibant as compared with tranexamic acid in one trial and a nonsignificantbenefit of ic atibant in the other trial are found with regard to the primary end point.
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
The results confirmed in an unbiased manner the existence of a contiguous gene syndrome with a significantly higher incidence of learning disabilities and facial dysmorphism in microdeleted NF1 patients compared to patients with intragenic NF1 mutations.
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.
The hypothesis that the Pseudoxanthoma Elasticum disorder indeed represents a separate clinical and genetic entity is supported, the molecular background of which remains to be unraveled.
Novel ABCC6 mutations in pseudoxanthoma elasticum.
Study of a cohort of 19 families with PXE identified 16 different mutations, nine of which were novel variants, and found that arginine codon 518 was, with the previously described R1141X and EX23_29del, a recurrently mutated amino acid.
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
The data demonstrate the value of ultradeep NGS for molecular diagnosis of PROS, highlight its substantial allelic heterogeneity, and confirm that optimal diagnosis requires fresh skin or surgical samples from affected regions.