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Novel ABCA-12 mutations leading to recessive congenital ichthyosis.
[lamellar ichthyosis]
Mutations
in
the
keratinocyte
lipid
transporter
adenosine
triphosphate-binding
cassette
A
12
(
ABCA
12
)
are
known
to
cause
harlequin
ichthyosis
.
More
recently
,
mutations
in
this
gene
have
been
demonstrated
to
cause
other
phenotypes
within
the
spectrum
of
recessive
congenital
ichthyosis
.
We
report
the
case
of
an
infant
with
novel
heterozygous
mutations
in
ABCA
12
who
exhibited
features
and
a
clinical
course
more
consistent
with
congenital
ichthyosiform
erythroderma
than
harlequin
ichthyosis
.
Diseases
Validation
Diseases presenting
"mutations in abca12"
symptom
harlequin ichthyosis
lamellar ichthyosis
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