Neurofibromatosis 1 (NF1) is a common neurocutaneous condition with an autosomal
dominant pattern of inheritance. The complications are diverse and disease expression …

Neurofibromatosis type 1 and type 2 both occur in mosaic forms. Mosaicism results from
somatic mutations. Early somatic mutations cause generalized disease, clinically …

Aim This systematic review aimed to pull together the findings from research into
behavioural systems and attention in children with neurofibromatosis type 1 (NF1) and to …

Purpose By incorporating major developments in genetics, ophthalmology, dermatology,
and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to …

Neurofibromatosis type 1 (NF1) is characterized by café-au-lait spots, skinfold freckling, and
cutaneous neurofibromas. No obvious relationships between small mutations (< 20 bp) of …

Abstract The phosphatidylinositol 3-kinase (PI3K)-AKT signaling pathway is critical for
cellular growth and metabolism. Correspondingly, loss of function of PTEN, a negative …

Background Misoprostol is commonly used to induce abortion in Brazil, and in other
countries in South and Central America where abortions are illegal. However, misoprostol is …

Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental
overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include …

BACKGROUND. Sporadic vascular malformations (VMs) are complex congenital anomalies
of blood vessels that lead to stroke, life-threatening bleeds, disfigurement, overgrowth …

Abstract Purpose Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are
genetically distinct tumor predisposition syndromes with overlapping phenotypes. We …