- The
RASopathies are a
group of
developmental syndromes caused by
germline mutations in
genes belonging to the Ras/MAPK pathway.
Common features include...
-
constitutively active.
Trametinib has been used off
label to
treat various RASopathies,
including Noonan Syndrome and
Primary Intestinal Lymphangiectasia. "Prescription...
-
disease in the
RASopathy family of diseases,
which include Costello Syndrome,
Noonan Syndrome, and
Cardiofaciocutaneous syndrome. The
RASopathies also present...
-
short stature and many have
reduced levels of
growth hormones. It is a
RASopathy.[citation needed]
Beginning in
early childhood,
people with
specific mutations...
-
dominant condition or
occur as a new mutation.
Noonan syndrome is a type of
RASopathy, the
underlying mechanism for
which involves attenuation of the RAS/MAPK...
- condition's
symptoms is not well known; however,
research is ongoing. It is a
RASopathy.
Noonan syndrome with
multiple lentigines is
caused by a
different missense...
- are
absent in
Legius syndrome.
Legius syndrome is a
phakomatosis and a
RASopathy, a
developmental syndrome due to
germline mutations in genes. The condition...
- with
intellectual disability, neuro-cardio-facial-cutaneous syndromes,
RASopathies,
ectodermal dysplasias, and
certain myopathies.
Physicians can often...
- (CFC)
syndrome is an
extremely rare
genetic disorder, and is one of the
RASopathies. It was
first described in 1986. It is
characterized by the following:...
-
trauma syndrome Rapp–Hodgkin
syndrome Rapunzel syndrome Rasmussen syndrome RASopathy Raymond Céstan
syndrome Raynaud syndrome Red ear
syndrome Red man syndrome...
