Add to ORKGNoonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth, facial dysmorphism and variable cognitive deficits, is caused by constitutional dysregulation of the RAS-MAPK signaling pathway. Here we report that germline NRAS mutations conferring enhanced stimulus-dependent MAPK activation account for some cases of this disorder. These findings provide evidence for an obligate dependency on proper NRAS function in human development and growth
Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defec...
Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defec...
Noonan syndrome (NS) is a common developmental disorder presenting with dysmorphic craniofacial feat...
Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth,...
Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth,...
Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth,...
Aberrant signaling through pathways controlling cell response to extracellular stimuli constitutes a...
Noonan syndrome (NS) and the clinically overlapping disorders cardio-facio-cutaneous syndrome, LEOPA...
Noonan syndrome (NS) and related Noonan syndrome with multiple lentigines (NSML) contribute to the p...
Noonan syndrome (NS) is a developmental disorder characterized by short stature, facial dysmorphia,...
Noonan syndrome is a relatively common developmental disorder that is characterized by reduced growt...
Noonan syndrome (NS), a heterogeneous developmental disorder associated with variable clinical expre...
Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defec...
RAS GTPases mediate a wide variety of cellular functions, including cell proliferation, survival, an...
RAS GTPases mediate a wide variety of cellular functions, including cell proliferation, survival, an...
Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defec...
Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defec...
Noonan syndrome (NS) is a common developmental disorder presenting with dysmorphic craniofacial feat...
Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth,...
Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth,...
Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth,...
Aberrant signaling through pathways controlling cell response to extracellular stimuli constitutes a...
Noonan syndrome (NS) and the clinically overlapping disorders cardio-facio-cutaneous syndrome, LEOPA...
Noonan syndrome (NS) and related Noonan syndrome with multiple lentigines (NSML) contribute to the p...
Noonan syndrome (NS) is a developmental disorder characterized by short stature, facial dysmorphia,...
Noonan syndrome is a relatively common developmental disorder that is characterized by reduced growt...
Noonan syndrome (NS), a heterogeneous developmental disorder associated with variable clinical expre...
Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defec...
RAS GTPases mediate a wide variety of cellular functions, including cell proliferation, survival, an...
RAS GTPases mediate a wide variety of cellular functions, including cell proliferation, survival, an...
Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defec...
Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defec...
Noonan syndrome (NS) is a common developmental disorder presenting with dysmorphic craniofacial feat...