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A random Abstract
Our Project
Our Team
[Identification of mutation in PAX9 gene in a Mongolian family with non-syndromic oligodontia].
[oligodontia]
To
investigate
the
mutation
in
transcription
factor
paired
box
gene
PAX
9
in
a
mongolian
family
with
non-syndromic
oligodontia
.
Peripheral
blood
was
collected
from
17
core
family
members
(
9
unaffected
,
8
affected
)
in
this
Mongolian
family
with
non-syndromic
oligodontia
.
Mutation
in
exons
of
PAX
9
gene
was
identified
by
PCR
amplification
and
DNA
sequencing
.
A
point
mutation
c
.
87
G
>
C
at
position
87
in
exon
4
of
PAX
9
was
identified
from
8
affected
members
in
the
family
,
which
were
G
/
C
heterozygous
.
W
hile
the
9
healthy
members
in
the
family
were
homozygous
for
C
which
was
consistent
with
normal
reference
sequence
in
the
GenBank
(
accession
number
:
NC
_
000014
)
.
The
mutation
of
c
.
87
G
>
C
(
p
.
Ala
240
P
ro
)
in
exon
4
of
PAX
9
was
likely
to
cause
the
non-syndromic
oligodontia
in
this
Mongolian
family
.
Diseases
Validation
Diseases presenting
"peripheral blood"
symptom
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
aniridia
cohen syndrome
congenital toxoplasmosis
cutaneous mastocytosis
erdheim-chester disease
esophageal adenocarcinoma
esophageal squamous cell carcinoma
familial mediterranean fever
gm1 gangliosidosis
junctional epidermolysis bullosa
lamellar ichthyosis
monosomy 21
oligodontia
omenn syndrome
scrub typhus
severe combined immunodeficiency
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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