Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Discovery in genetic skin disease: the impact of high throughput genetic technologies.
[harlequin ichthyosis]
The
last
decade
has
seen
considerable
advances
in
our
understanding
of
the
genetic
basis
of
skin
disease
,
as
a
consequence
of
high
throughput
sequencing
technologies
including
next
generation
sequencing
and
whole
exome
sequencing
.
We
have
now
determined
the
genes
underlying
several
monogenic
diseases
,
such
as
harlequin
ichthyosis
,
Olmsted
syndrome
,
and
exfoliative
ichthyosis
,
which
have
provided
unique
insights
into
the
structure
and
function
of
the
skin
.
In
addition
,
through
genome
wide
association
studies
we
now
have
an
understanding
of
how
low
penetrance
variants
contribute
to
inflammatory
skin
diseases
such
as
psoriasis
vulgaris
and
atopic
dermatitis
,
and
how
they
contribute
to
underlying
pathophysiological
disease
processes
.
In
this
review
we
discuss
strategies
used
to
unravel
the
genes
underlying
both
monogenic
and
complex
trait
skin
diseases
in
the
last
10
years
and
the
implications
on
mechanistic
studies
,
diagnostics
,
and
therapeutics
.
Diseases
Validation
Diseases presenting
"ichthyosis"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
junctional epidermolysis bullosa
kallmann syndrome
lamellar ichthyosis
This symptom has already been validated