Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Integration of human and mouse genetics reveals pendrin function in hearing and deafness.
[pendred syndrome]
Genomic
technology
has
completely
changed
the
way
in
which
we
are
able
to
diagnose
human
genetic
mutations
.
Genomic
techniques
such
as
the
polymerase
chain
reaction
,
linkage
analysis
,
Sanger
sequencing
,
and
most
recently
,
massively
parallel
sequencing
,
have
allowed
researchers
and
clinicians
to
identify
mutations
for
patients
with
Pendred
syndrome
and
DFNB
4
non-syndromic
hearing
loss
.
While
thus
far
most
of
the
mutations
have
been
in
the
SLC
26
A
4
gene
coding
for
the
pendrin
protein
,
other
genetic
mutations
may
contribute
to
these
phenotypes
as
well
.
Furthermore
,
mouse
models
for
deafness
have
been
invaluable
to
help
determine
the
mechanisms
for
SLC
26
A
4
-
associated
deafness
.
Further
work
in
these
areas
of
research
will
help
define
genotype-phenotype
correlations
and
develop
methods
for
therapy
in
the
future
.
Diseases
Validation
Diseases presenting
"hearing loss"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
benign recurrent intrahepatic cholestasis
canavan disease
cohen syndrome
congenital toxoplasmosis
dentinogenesis imperfecta
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
neonatal adrenoleukodystrophy
pendred syndrome
von hippel-lindau disease
wolf-hirschhorn syndrome
This symptom has already been validated