Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Exclusion of COL7A1 mutation in Kindler syndrome.
[kindler syndrome]
We
describe
a
patient
with
Kindler
syndrome
with
an
18
-
year
follow-up
who
was
initially
misdiagnosed
as
suffering
from
dystrophic
epidermolysis
bullosa
.
The
patient
's
skin
showed
broad
reticulate
labeling
for
collagen
VII
and
reduplication
of
the
lamina
densa
.
Screening
of
this
patient
's
DNA
excluded
any
pathogenic
COL
7
A
1
mutations
.