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Laminin 332 in junctional epidermolysis bullosa.
[junctional epidermolysis bullosa]
Laminin
332
is
an
essential
component
of
the
dermal-epidermal
junction
,
a
highly
specialized
basement
membrane
zone
that
attaches
the
epidermis
to
the
dermis
and
thereby
provides
skin
integrity
and
resistance
to
external
mechanical
forces
.
Mutations
in
the
LAMA
3
,
LAMB
3
and
LAMC
2
genes
that
encode
the
three
constituent
polypeptide
chains
,
α
3
,
β
3
and
γ
2
,
abrogate
or
perturb
the
functions
of
laminin
332
.
The
phenotypic
consequences
are
diminished
dermal-epidermal
adhesion
and
,
as
clinical
symptoms
,
skin
fragility
and
mechanically
induced
blistering
.
The
disorder
is
designated
as
junctional
epidermolysis
bullosa
(
JEB
)
.
This
article
delineates
the
signs
and
symptoms
of
the
different
forms
of
JEB
,
the
mutational
spectrum
,
genotype-phenotype
correlations
as
well
as
perspectives
for
future
molecular
therapies
.
Diseases
Validation
Diseases presenting
"skin integrity"
symptom
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
junctional epidermolysis bullosa
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