Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome.
[proteus syndrome]
Germline
PTEN
(
Phosphatase
and
TENsin
homologue
deleted
on
chromosome
TEN
)
mutations
predispose
to
phenotypically
diverse
disorders
that
share
several
overlapping
clinical
features
:
Cowden
syndrome
,
Bannayan-
Riley
-
Ruvalcaba
syndrome
,
Proteus
syndrome
and
Proteus-like
syndrome
,
collectively
classified
as
PTEN
hamartoma
tumour
syndrome
(
PHTS
)
.
The
meticulous
acquisition
and
documentation
of
PHTS
phenotypic
data
at
different
levels
and
the
profiling
of
the
plethora
of
genetic
changes
in
PTEN
and
other
genes
within
the
same
or
related
pathways
are
important
in
resolving
the
challenge
of
discriminating
heritable
cancers
from
sporadic
PHTS-mimicking
clinical
features
.
The
characterization
of
PTEN
and
PTEN
-related
pathways
from
a
multidisciplinary
perspective
underscores
the
importance
of
incorporating
data
from
different
-
omics
,
which
is
crucial
for
the
advancement
of
personalized
medicine
.
