Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Using the TBX5 transcription factor to grow and sculpt the heart.
[holt-oram syndrome]
TBX
5
mutations
cause
the
cardiac
and
limb
defects
of
the
autosomal
dominant
Holt-
Oram
syndrome
(
HOS
)
.
We
have
explored
the
role
of
the
TBX
5
transcription
factor
during
cardiogenesis
and
have
elucidated
some
of
its
functions
in
regulating
myocardial
cell
proliferation
and
proepicardial
cell
migration
.
Our
identification
of
TBX
5
mutations
has
enabled
us
to
offer
genetic
testing
for
diagnosis
of
HOS
in
patients
and
also
to
perform
preimplantation
genetic
diagnosis
on
blastocysts
for
couples
desiring
to
have
a
child
unaffected
by
HOS
.
We
hope
that
our
genetic
testing
approach
will
serve
as
a
paradigm
for
mutation
screening
in
other
inherited
syndromes
.