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RASopathy
The
RASopathies
are
developmental
syndromes
caused
by
germline mutations
in genes that alter the
Ras subfamily
and
mitogen-activated protein kinases
that
control signal
transduction
, including:
Capillary malformation-AV
malformation syndrome
Autoimmune
lymphoproliferative
syndrome
Cardiofaciocutaneous syndrome
Hereditary gingival
fibromatosis
type 1
Neurofibromatosis
type
1
Noonan syndrome
Costello syndrome, Noonan-like
Legius syndrome, Noonan-like
Noonan syndrome with
multiple
lentigines
, formerly called
LEOPARD syndrome
, Noonan-like