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Genetics of neural crest and neurocutaneous syndromes.
[proteus syndrome]
Neural
crest
progenitor
cells
are
identified
at
the
lateral
margins
of
the
neural
placode
at
the
time
of
gastrulation
.
With
folding
of
the
placode
,
these
precursors
are
brought
to
the
dorsal
midline
of
the
neural
tube
at
the
site
of
closure
,
become
committed
to
neural
crest
lineage
and
almost
immediately
migrate
peripherally
to
various
predetermined
sites
in
the
body
and
then
differentiate
as
a
variety
of
cellular
types
in
all
three
of
the
traditional
"
germ
layers
.
"
All
of
these
processes
of
migration
and
differentiation
of
neural
crest
are
precisely
genetically
programed
,
temporally
and
spatially
,
by
a
variety
of
genes
.
Primary
neurocutaneous
syndromes
are
all
very
different
diseases
with
different
genetic
mutations
,
but
the
unifying
factor
amongst
them
is
that
all
are
neurocristopathies
and
can
be
explained
as
such
,
including
the
tumor
-suppressor
function
of
several
of
these
genes
,
especially
those
of
neurofibromatosis
1
and
2
and
tuberous
sclerosis
.
This
chapter
reviews
the
principal
genes
that
program
neural
crest
development
and
also
are
documented
,
implicated
,
or
suspected
in
the
pathogenesis
of
neurocutaneous
syndromes
.
Recent
genetic
discoveries
are
noted
in
epidermal
nevus
syndrome
,
including
Proteus
syndrome
and
their
association
with
hemimegalencephaly
and
congenital
infiltrating
lipomatosis
of
the
face
.
Diseases
Validation
Diseases presenting
"lateral margins of the neural placode at the time"
symptom
proteus syndrome
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