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A random Abstract
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Realm of revertant mosaicism expanding.
[kindler syndrome]
In
this
issue
,
Lai-
Cheong
et
al
.
report
a
patient
with
Kindler
syndrome
who
showed
revertant
mosaicism
:
a
patch
of
normal-looking
skin
attributable
to
a
reverse
mutation
.
The
molecular
basis
of
the
reverted
patch
appeared
to
be
the
deletion
of
a
duplicated
cytosine
,
thus
restoring
the
reading
frame
of
FERMT
1
transcripts
.
This
finding
further
pushes
the
frontier
of
revertant
mosaicism
,
a
phenomenon
of
spontaneous
gene
repair
,
which
can
be
seen
with
the
naked
eye
in
skin
.
Diseases
Validation
Diseases presenting
"which can be seen with the naked eye in skin"
symptom
kindler syndrome
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