Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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DNA-based prenatal exclusion of harlequin ichthyosis.
[harlequin ichthyosis]
Harlequin
ichthyosis
(
HI
)
is
a
severe
and
usually
fatal
congenital
ichthyosis
with
an
autosomal
recessive
inheritance
pattern
.
Until
the
identification
of
ABCA
12
as
the
causative
gene
,
prenatal
diagnosis
(
PND
)
for
HI
had
been
performed
by
electronmicroscopic
observation
of
fetal
skin
biopsy
samples
.
We
report
herein
a
case
of
DNA-based
prenatal
exclusion
of
HI
.
We
performed
PND
by
direct
sequence
analysis
and
restriction
enzyme
digestion
analysis
using
fetal
genomic
DNA
from
amniotic
fluid
cells
at
16
weeks
'
gestation
.
This
study
demonstrates
the
efficacy
of
early
DNA-based
exclusion
of
HI
.