The RASopathies are a group of disorders caused by a germline mutation in one of the
genes encoding a component of the RAS/MAPK pathway. These disorders, including …

Abstract Neurofibromatosis type 1 (NF1) is a common genetic disorder that predisposes
affected individuals to tumours. The NF1 gene encodes a RAS GTPase-activating protein …

We report on whole-exome sequencing (WES) of 213 melanomas. Our analysis established
NF1, encoding a negative regulator of RAS, as the third most frequently mutated gene in …

RASopathies or RAS/mitogen-activated protein kinase (MAPK) syndromes are a group of
phenotypically overlapping syndromes caused by germline mutations that encode …

Abstract Noonan syndrome [NS; Mendelian Inheritance in Men (MIM)# 163950] and related
syndromes [Noonan syndrome with multiple lentigines (formerly called LEOPARD …

Background Noonan syndrome is an autosomal dominant, multisystemic disorder caused by
dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. Heterozygous …

The leucine zipper–like transcriptional regulator 1 (LZTR1) protein, an adaptor for cullin 3
(CUL3) ubiquitin ligase complex, is implicated in human disease, yet its mechanism of …

Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait
macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability …

Purpose To characterize the molecular genetics of autosomal recessive Noonan syndrome.
Methods Families underwent phenotyping for features of Noonan syndrome in children and …

The fast technological development, particularly single nucleotide polymorphism array, array-
comparative genomic hybridization, and whole exome sequencing, has led to the discovery …