Rare Diseases Symptoms Automatic Extraction
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Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis.
[wolf-hirschhorn syndrome]
Microcephaly
represents
one
of
the
most
obvious
clinical
manifestations
of
impaired
neurogenesis
.
Defects
in
the
DNA
damage
response
,
in
DNA
repair
,
and
structural
abnormalities
in
centrosomes
,
centrioles
and
the
spindle
microtubule
network
have
all
been
demonstrated
to
cause
microcephaly
in
humans
.
Work
describing
novel
functional
defects
in
cell
lines
from
individuals
with
either
Meier-
Gorlin
syndrome
or
Wolf-
Hirschhorn
syndrome
highlight
the
significance
of
optimal
DNA
replication
and
S
phase
progression
for
normal
human
development
,
including
neurogenesis
.
These
findings
illustrate
how
different
primary
defects
in
processes
impacting
upon
DNA
replication
potentially
influence
similar
phenotypic
outcomes
,
including
growth
retardation
and
microcephaly
.
Herein
,
we
will
describe
the
nature
of
the
S
phase
defects
uncovered
for
each
of
these
conditions
and
highlight
some
of
the
overlapping
cellular
features
.