Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Phenotypic heterogeneity in AAAS gene mutation.
[triple a syndrome]
We
report
the
cases
of
two
sibs
of
North
African
origin
with
AAAS
gene
mutation
characterized
by
the
heterogeneity
of
their
phenotype
.
While
an
8
-
y-old
boy
presented
with
acute
adrenal
insufficiency
and
mental
retardation
,
the
diagnosis
was
suggested
by
the
clinical
history
of
his
6
-
y-old
sister
who
had
symptomatic
achalasia
and
chronic
adrenal
failure
.
Our
observations
corroborate
the
phenotypic
heterogeneity
reported
in
triple
A
syndrome
,
and
underline
the
possibility
of
a
variable
intra-familial
expression
.
