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Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3.
[junctional epidermolysis bullosa]
Herlitz
junctional
epidermolysis
bullosa
(
H-
JEB
)
is
a
rare
,
heritable
mechanobullous
disease
that
affects
infants
at
birth
and
causes
early
death
.
This
disease
is
primarily
caused
by
compound
heterozygous
or
homozygous
mutations
in
one
of
three
genes
affecting
the
function
of
one
of
the
three
chains
of
the
laminin-
332
(
formerly
laminin-
5
)
protein
.
Here
we
report
a
case
of
H-
JEB
with
a
novel
heterozygous
mutation
in
LAMB
3
,
c
.
1597
G
>
A
(
p
.
Ala
533
Thr
)
.
These
findings
attest
to
the
molecular
heterogeneity
of
JEB
and
emphasize
the
importance
of
genetic
analysis
to
help
make
an
accurate
diagnosis
,
predict
clinical
prognosis
,
and
identify
phenotypic-genotypic
relationships
that
may
aid
in
prenatal
diagnosis
and
genetic
counseling
for
the
future
.
Diseases
Validation
Diseases presenting
"heritable mechanobullous disease"
symptom
junctional epidermolysis bullosa
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