Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
The KAL1 pVal610Ile mutation is a recessive mutation causing Kallmann syndrome.
[kallmann syndrome]
To
present
the
clinical
,
genetic
,
biochemical
,
and
molecular
findings
in
two
Chinese
siblings
with
X-
linked
recessive
Kallmann
syndrome
(
KS
)
.
Case
report
.
University
medical
center
.
Two
Chinese
siblings
.
Clinical
evaluation
,
hormone
assays
,
and
gene
mutation
research
.
Endocrinologic
evaluation
and
genetic
analysis
.
A
missense
mutation
of
KAL
1
,
c
.
1828
G
>
A
,
led
to
pVal
610
Ile
substitution
in
two
brothers
with
KS
;
their
mother
is
heterozygous
for
this
missense
mutation
encoded
by
single
-nucleotide
polymorphism
rs
2229013
.
Mutation
analysis
revealed
that
a
missense
mutation
of
KAL
1
in
two
brothers
with
KS
,
while
their
mother
was
heterozygous
for
this
missense
mutation
encoded
by
the
single
-nucleotide
polymorphism
rs
2229013
.
Variant
alleles
of
KAL
1
related
to
X-
linked
recessive
KS
expand
the
spectrum
of
KAL
1
mutations
causing
KS
.