Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Unusual clinical presentations in subjects carrying novel NOTCH3 gene mutations.
[cadasil]
Cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
is
a
disease
caused
by
alterations
in
the
NOTCH
3
gene
.
We
describe
the
clinical
,
instrumental
,
and
genetic
findings
in
CADASIL
patients
who
carry
novel
NOTCH
3
gene
mutations
.
This
study
broadens
the
spectrum
of
clinical
manifestations
and
genetic
alterations
associated
with
this
disease
.
Diseases
Validation
Diseases presenting
"leukoencephalopathy"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
epidermolysis bullosa simplex
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
krabbe disease
phenylketonuria
pyruvate dehydrogenase deficiency
sneddon syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated