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Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
is
a
rare
,
multiple
congenital
anomaly
/
mental
retardation
syndrome
caused
by
MLL
2
point
mutations
and
KDM
6
A
microdeletions
.
We
screened
a
large
cohort
of
MLL
2
mutation
-negative
patients
for
MLL
2
and
KDM
6
A
exon
(
s
)
microdeletion
and
microduplication
.
Our
assays
failed
to
detect
such
rearrangements
in
MLL
2
as
well
as
in
KDM
6
A
gene
.
These
results
show
that
these
genomic
events
are
extremely
rare
in
the
Kabuki
syndrome
,
substantiating
its
genetic
heterogeneity
and
the
search
for
additional
causative
gene
(
s
)
.
Diseases
Validation
Diseases presenting
"anomaly/mental"
symptom
cohen syndrome
kabuki syndrome
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