Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Differential diagnoses of overgrowth syndromes: the most important clinical and radiological disease manifestations.
[proteus syndrome]
Overgrowth
syndromes
comprise
a
heterogeneous
group
of
diseases
that
are
characterized
by
excessive
tissue
development
.
Some
of
these
syndromes
may
be
associated
with
dysfunction
in
the
receptor
tyrosine
kinase
(
RTK
)
/
PI
3
K
/
AKT
pathway
,
which
results
in
an
increased
expression
of
the
insulin
receptor
.
In
the
current
review
,
four
overgrowth
syndromes
were
characterized
(
Proteus
syndrome
,
Klippel-
Trenaunay-
Weber
syndrome
,
Madelung
's
disease
,
and
neurofibromatosis
type
I
)
and
illustrated
using
cases
from
our
institution
.
Because
these
syndromes
have
overlapping
clinical
manifestations
and
have
no
established
genetic
tests
for
their
diagnosis
,
radiological
methods
are
important
contributors
to
the
diagnosis
of
many
of
these
syndromes
.
The
correlation
of
genetic
discoveries
and
molecular
pathways
that
may
contribute
to
the
phenotypic
expression
is
also
of
interest
,
as
this
may
lead
to
potential
therapeutic
interventions
.
