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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
"large cohort"
symptom
adrenal incidentaloma
adrenomyeloneuropathy
cadasil
child syndrome
congenital diaphragmatic hernia
cushing syndrome
cystinuria
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
oligodontia
pendred syndrome
phenylketonuria
thoracic outlet syndrome
waldenström macroglobulinemia
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