Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Genetic testing by cancer site: colon (polyposis syndromes).
[cowden syndrome]
Hereditary
colonic
polyposis
conditions
are
all
characterized
by
high
rates
of
cancer
,
but
they
have
diverse
phenotypes
,
genetic
heterogeneity
,
and
assorted
inheritance
patterns
.
The
most
well
known
of
these
conditions
include
familial
adenomatous
polyposis
,
attenuated
familial
adenomatous
polyposis
,
MUTYH
(
MutY
human
homolog
)
-
associated
polyposis
,
Peutz-
Jeghers
syndrome
,
juvenile
polyposis
syndrome
,
and
Cowden
syndrome
.
Early
recognition
of
these
conditions
is
not
only
vital
for
management
in
affected
individuals
,
but
also
for
prevention
and
early
detection
in
at
-risk
relatives
.
Reviewed
here
are
the
genetic
testing
strategies
for
colonic
polyposis
,
as
well
as
an
overview
of
characteristic
features
and
management
considerations
for
these
syndromes
.
Diseases
Validation
Diseases presenting
"high rates"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
carcinoma of the gallbladder
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cystinuria
dracunculiasis
dystrophic epidermolysis bullosa
locked-in syndrome
pyomyositis
von hippel-lindau disease
x-linked adrenoleukodystrophy
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