Rare Diseases Symptoms Automatic Extraction
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Epidermolysis bullosa simplex.
[epidermolysis bullosa simplex]
The
prevalence
of
epidermolysis
bullosa
simplex
(
EBS
)
is
estimated
to
be
approximately
6
to
30
per
1
million
live
births
.
The
disease
is
usually
caused
by
missense
mutations
in
KRT
5
and
KRT
14
,
encoding
keratins
mostly
expressed
in
the
epidermal
basal
layer
.
Major
advances
in
understanding
of
the
molecular
basis
of
EBS
and
other
keratin
disorders
have
led
to
the
development
of
DNA-based
prenatal
testing
.
Diseases
Validation
Diseases presenting
"mutations in krt5"
symptom
epidermolysis bullosa simplex
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