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Neonatal hypercalcemia due to polymorphisms of the calcium sensing receptor.
[familial hypocalciuric hypercalcemia]
Familial
hypocalciuric
hypercalcemia
(
FHH
)
is
known
to
be
caused
by
heterozygous
inactivating
mutations
of
the
calcium
sensing
receptor
(
CaSR
)
gene
.
We
report
an
infant
with
transient
neonatal
hypercalcemia
who
was
found
to
be
homozygous
for
a
polymorphism
at
A
986
S
of
the
CaSR
.
Diseases
Validation
Diseases presenting
"heterozygous inactivating mutations of the calcium sensing receptor"
symptom
familial hypocalciuric hypercalcemia
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