Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Our Team
Revision of "A 223-kb de novo deletion of PAX9 in a patient with oligodontia".
[oligodontia]
The
PAX
(
paired
box
)
genes
are
a
family
of
transcription
factors
critical
for
fetal
growth
and
organogenesis
.
Abnormalities
of
PAX
2
,
PAX
3
,
PAX
6
,
and
PAX
9
are
associated
with
various
congenital
craniofacial
anomalies
,
including
tooth
abnormalities
.
We
present
here
a
boy
with
oligodontia
.
Dental
radiographs
showed
that
he
lacked
primary
molars
and
was
missing
most
of
his
permanent
teeth
.
A
genome-
wide
single
-nucleotide
polymorphism-based
microarray
revealed
a
de
novo
223
-
kb
heterozygous
deletion
on
14
q
13
.
3
that
included
the
PAX
9
gene
.
The
findings
in
this
patient
illustrate
the
role
of
the
PAX
9
gene
in
tooth
development
and
provide
the
first
example
of
a
de
novo
deletion
of
14
q
13
.
3
manifesting
primarily
with
oligodontia
.
This
report
also
supports
the
utility
of
genome-
wide
microarrays
in
determining
the
genetic
cause
of
craniofacial
abnormalities
.
Diseases
Validation
Diseases presenting
"oligodontia"
symptom
achondroplasia
dentin dysplasia
dentinogenesis imperfecta
oligodontia
This symptom has already been validated