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 …

Lymphoedema is the swelling of one or several parts of the body owing to lymph
accumulation in the extracellular space. It is often chronic, worsens if untreated, predisposes …

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

With advances in genomic sequencing technology, the number of reported gene-disease
relationships has rapidly expanded. However, the evidence supporting these claims varies …

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 …

Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …

In genetic screens aimed at understanding drug resistance mechanisms in chronic myeloid
leukemia cells, inactivation of the cullin 3 adapter protein-encoding leucine zipper-like …

Over the two past decades, mutations of the PTPN11 gene, encoding the ubiquitous protein
tyrosine phosphatase SHP2 (SH2 domain-containing tyrosine phosphatase 2), have been …

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 …