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Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia.
[kabuki syndrome]
Kabuki
syndrome
is
a
rare
condition
characterized
by
distinct
dysmorphic
features
and
a
broad
spectrum
of
organ
anomalies
.
Differentiating
it
from
other
syndromes
can
be
difficult
,
particularly
in
patients
with
incomplete
phenotypic
manifestation
.
Recently
,
MLL
2
gene
mutations
were
identified
as
the
underlying
genetic
cause
of
Kabuki
syndrome
in
the
majority
of
cases
.
We
report
the
case
of
an
adolescent
with
an
uncommon
combination
of
manifestations
,
including
hypogammaglobulinemia
and
severe
chronic
thrombopenia
associated
with
a
novel
MLL
2
mutation
.
T
his
report
adds
to
the
growing
knowledge
on
the
mutational
and
phenotypic
spectrum
of
Kabuki
syndrome
.