Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Unmasking Kabuki syndrome.
[kabuki syndrome]
The
identification
of
de
novo
dominant
mutations
in
KMT
2
D
(
MLL
2
)
as
the
main
cause
of
Kabuki
syndrome
(
KS
)
has
shed
new
light
on
the
pathogenesis
of
this
well-delineated
condition
consisting
of
a
peculiar
facial
appearance
,
short
stature
,
organ
malformations
and
a
varying
degree
of
intellectual
disability
.
Mutation
screening
studies
have
confirmed
KMT
2
D
as
the
major
causative
gene
for
KS
and
have
at
the
same
time
provided
evidence
for
its
genetic
heterogeneity
.
In
this
review
,
we
aim
to
summarize
the
current
clinical
and
molecular
genetic
knowledge
on
KS
,
provide
genotype-phenotype
correlations
and
propose
a
strategic
clinical
and
molecular
diagnostic
approach
for
patients
with
suspected
KS
.
