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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
.
Diseases
Validation
Diseases presenting
"c"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
coats disease
cohen syndrome
dedifferentiated liposarcoma
epidermolysis bullosa simplex
erythropoietic protoporphyria
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kallmann syndrome
oligodontia
papillon-lefèvre syndrome
phenylketonuria
pyruvate dehydrogenase deficiency
von hippel-lindau disease
x-linked adrenoleukodystrophy
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