Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis.
[cohen syndrome]
Cohen
syndrome
is
an
autosomal
recessive
disorder
characterized
by
mental
and
motor
retardation
,
short
stature
,
microcephaly
,
several
dysmorphic
features
,
major
ocular
symptoms
and
granulocytopenia
.
Major
research
challenges
are
the
confusing
nosology
and
the
pleiotropy
of
the
gene
.
We
report
the
mapping
of
a
locus
(
CHS
1
)
by
linkage
analysis
in
as
few
as
four
two
-generation
pedigrees
with
uniform
clinical
features
.
CHS
1
was
assigned
to
an
interval
of
approximately
10
cM
between
D
8
S
270
and
D
8
S
521
.
Our
results
provide
a
tool
to
a
more
accurate
definition
of
Cohen
syndrome
(
s
)
and
a
starting
point
for
the
positional
cloning
of
CHS
1
.