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Description of two new ABCB11 mutations responsible for type 2 benign recurrent intrahepatic cholestasis in a French-Canadian family.
[benign recurrent intrahepatic cholestasis]
Benign
recurrent
intrahepatic
cholestasis
is
a
rare
clinical
entity
that
is
caused
by
mutations
in
the
canalicular
transport
genes
.
The
present
report
describes
two
individuals
from
the
same
family
whose
symptoms
were
typical
of
the
clinical
characteristics
of
type
2
benign
recurrent
intrahepatic
cholestasis
.
Sequencing
of
the
ABCB
11
gene
revealed
two
previously
unreported
mutations
that
predict
the
absence
of
expression
of
the
protein
.
The
clinical
presentation
of
the
current
cases
are
discussed
,
as
are
the
differential
diagnosis
and
genetic
characteristics
of
the
hereditary
cholestatic
disorders
,
overemphasizing
the
possibility
of
making
a
definite
genetic
diagnosis
.
Diseases
Validation
Diseases presenting
"previously unreported mutations"
symptom
benign recurrent intrahepatic cholestasis
harlequin ichthyosis
krabbe disease
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