RASopathies是一组由于Ras/丝裂原激活蛋白激酶（Ras/mitogen activated protein kinase，MAPK）通路中的组分或调节因子的编码基因发生突变引起的一系列疾病。Ras/MAPK通路在调控细胞发育过程中发挥重要作用，因此RASopathies涉及疾病众多，且临床表现相互重叠，诊断难度大。其中，矮小症是RASopathies最常见的临床表现之一，但导致矮小症的机制有待进一步探索，且生长激素治疗RASopathies的效果差异较大。本文就RASopathies及其在矮小症中的研究进展作一综述。
Abstract:
RASopathies are a group of disorders characterized by mutations in genes that encode components of the Ras/mitogen activated protein kinase（MAPK） pathway. Ras/MAPK pathway plays a critical role in cell differentiation，proliferation and survival. Therefore，RASopathies have overlapping phenotypic features which may lead to difficult diagnosis. As a common phenotype，short stature affects most RASopathies patients. Due to complex possible mechanisms for short stature，growth hormone（GH） therapy efficacy remains to be elucidated and further research. In this review，we summarize short stature that associated with RASopathies and highlight the GH therapy in reported affected individuals with RASopathies.
