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Macular dystrophy in Kabuki syndrome: a new clinical feature?
[kabuki syndrome]
Kabuki
syndrome
is
a
rare
and
genetically
heterogenous
condition
that
has
both
systemic
and
ophthalmic
complications
.
Macular
dystrophy
has
not
previously
been
noted
in
conjunction
with
this
syndrome
.
The
authors
present
a
14
-
year
-old
girl
with
Kabuki
syndrome
with
macular
dystrophy
and
confirmatory
electrodiagnostics
.
Diseases
Validation
Diseases presenting
"genetically heterogenous condition"
symptom
kabuki syndrome
oligodontia
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