Rare Diseases Symptoms Automatic Extraction
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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
"ichthyosis"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
junctional epidermolysis bullosa
kallmann syndrome
lamellar ichthyosis
This symptom has already been validated