Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare disorder that arises as a result of a somatic mosaic mutation in the PIK3CA gene. It characteristically presents with ...

Different from vascular tumors, vascular malformations are mostly occurred before birth. In the light of the hemodynamics, vascular malformations can be sorted into the low-blood flow (capillary ...

Department of Neurology, Massachusetts General Hospital, Boston. (P.K., P.L.M.) Center for Genomic Medicine, Massachusetts General Hospital, Boston. (P.K., P.L.M ...

Despite their immense potential, gene and cell therapies that target rare diseases are at risk of market withdrawal, owing to several challenges. The authors describe these hurdles and call for ...

A brain arteriovenous malformation (BAVM) is an anomaly within the cerebral vasculature characterised by high-flow, fragile tangles of dysplastic vessels, forming a nidus composed of feeding arteries ...

Found near every living cell of the body. Microscopic – walls are one cell thick, this allows for the diffusion of substances into the cells from the capillaries and out of the cells into the ...