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Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridia.
[aniridia]
Mutations
in
the
KIF
21
A
gene
are
detected
in
the
patients
with
congenital
fibrosis
of
the
extraocular
muscles
.
Mutations
in
the
PAX
6
gene
are
detected
in
the
patients
with
congenital
aniridia
.
Herein
we
report
a
boy
with
both
congenital
fibrosis
of
extraocular
muscles
and
aniridia
.
Sequence
analysis
of
his
KIF
21
A
and
PAX
6
genes
reveals
a
1
-
bp
deletion
(
c
.
745
delC
)
in
the
PAX
6
gene
and
a
missense
mutation
of
c
.
2860
C
 
>
 
T
(
p
.
Arg
954
T
rp
)
in
KIF
21
A
.
This
study
demonstrates
that
the
occurrence
of
independent
mutations
in
more
than
a
single
gene
in
a
patient
may
lead
to
a
complex
phenotype
.
Diseases
Validation
Diseases presenting
"congenital aniridia"
symptom
aniridia
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