Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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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
"non-syndromic hearing loss"
symptom
kallmann syndrome
pendred syndrome
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