Abstract Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant
disorders and is caused by mutations in the NF1 gene. Mutation detection is complex due to …

Constitutional SMARCB1 mutations at 22q11. 23 have been found in∼ 50% of familial and<
10% of sporadic schwannomatosis cases. We sequenced highly conserved regions along …

purpose. To investigate the genetic basis of autosomal dominant vitreoretinochoroidopathy
(ADVIRC), a rare, inherited retinal dystrophy that may be associated with defects of ocular …

Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:
2,000–3,000, is characterized by a highly variable clinical presentation. To date, only two …

Osseous abnormalities, including long-bone dysplasia with pseudarthrosis (PA), are
associated with neurofibromatosis type 1 (NF1). Prospectively acquired tissue from the PA …

We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.
Met1149, p. Arg1276, or p. Lys1423, representing three nontruncating NF1 hotspots in the …

Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is an important
childhood nephropathy, occurring in 1 in 20 000 live births. 1 The clinical phenotype is …

Abstract Purpose Neurofibromatosis type 1 (NF1) is characterized by a highly variable
clinical presentation, but almost all NF1-affected adults present with cutaneous and/or …

The expression of a gene requires not only a normal coding sequence but also intact
regulatory regions, which can be located at large distances from the target genes, as …

Abstract Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurologic
condition characterized by significant clinical heterogeneity, ranging from malignant cancers …