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Laryngo-onycho-cutaneous syndrome.
[junctional epidermolysis bullosa]
Laryngo-onycho-
cutaneous
(
LOC
)
syndrome
was
reclassified
as
a
subtype
of
junctional
epidermolysis
bullosa
(
JEB
)
based
on
clinical
features
similar
to
JEB
and
its
association
,
in
the
majority
of
patients
from
the
Punjab
,
with
a
unique
mutation
affecting
the
N
terminus
of
the
alpha
3
chain
of
LM
332
.
Although
LOC
syndrome
is
now
a
subtype
of
JEB
(
JEB
-LOC
)
JEB
-LOC
has
a
distinct
clinicopathologic
appearance
and
molecular
fingerprint
.
The
intricacies
of
the
JEB
-LOC
subtype
are
discussed
in
this
article
with
regard
to
disease
presentation
,
pathogenesis
,
management
,
and
prognosis
.
Diseases
Validation
Diseases presenting
"molecular fingerprint"
symptom
junctional epidermolysis bullosa
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