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A random Abstract
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Brothers with germline PTEN mutations and persistent hypoglycemia, macrocephaly, developmental delay, short stature, and coagulopathy.
[proteus syndrome]
Phosphatase
and
tensin
homologue
deleted
in
chromosome
10
(
PTEN
)
has
dual
protein
and
lipid
phosphatase
activity
,
and
its
tumor
suppressor
activity
is
dependent
on
its
lipid
phosphatase
activity
,
which
negatively
regulates
the
phosphatidylinositol
3
-
kinase
/
Akt
pathway
.
Mutations
in
PTEN
have
been
identified
in
different
clinical
disorders
such
as
Bannayan-
Riley
-
Ruvalcaba
syndrome
,
Cowden
syndrome
,
Proteus
syndrome
,
Proteus-like
syndrome
,
and
autism
spectrum
disorders
with
macrocephaly
(
Hobert
)
.
The
absence
of
clear
genotype-phenotype
correlations
between
these
syndromes
appears
to
represent
age-related
manifestations
of
the
same
condition
,
which
shows
variable
expressivity
.
Here
,
we
present
two
siblings
whose
phenotypes
were
extremely
variable
compared
with
the
original
descriptions
of
the
syndromes
associated
with
PTEN
germline
mutations
.
Our
patients
present
with
a
unique
constellation
of
features
that
have
not
yet
been
described
in
humans
with
PTEN
germline
mutations
,
some
of
which
have
not
been
described
in
the
same
individual
,
like
severe
hypoglycemia
,
growth
hormone
deficiency
,
Von
Willebrand
disease
,
and
dyslipidemia
.
Diseases
Validation
Diseases presenting
"which shows variable expressivity"
symptom
cowden syndrome
proteus syndrome
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