Rare Diseases Symptoms Automatic Extraction
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An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.
[proteus syndrome]
We
report
on
a
patient
with
NF
1
microdeletion
and
clinical
manifestations
that
fulfill
the
diagnostic
criteria
for
neurofibromatosis
type
1
but
also
presenting
features
reminiscent
of
Proteus
syndrome
.