Clinical manifestations of mutations in RAS and related intracellular signal transduction factors
M Zenker - Current opinion in pediatrics, 2011 - journals.lww.com
M Zenker
Current opinion in pediatrics, 2011•journals.lww.comConstitutional overactivation at various levels of the RAS–MAPK pathway causes
overlapping syndromes, comprising characteristic facial features, cardiac defects, cutaneous
abnormalities, growth deficit, neurocognitive delay, and predisposition to malignancies.
Each syndrome also exhibits unique features that probably reflect genotype-related specific
biological effects.
overlapping syndromes, comprising characteristic facial features, cardiac defects, cutaneous
abnormalities, growth deficit, neurocognitive delay, and predisposition to malignancies.
Each syndrome also exhibits unique features that probably reflect genotype-related specific
biological effects.
Summary
Constitutional overactivation at various levels of the RAS–MAPK pathway causes overlapping syndromes, comprising characteristic facial features, cardiac defects, cutaneous abnormalities, growth deficit, neurocognitive delay, and predisposition to malignancies. Each syndrome also exhibits unique features that probably reflect genotype-related specific biological effects.
Lippincott Williams & Wilkins