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Advances in research on and diagnosis and treatment of achondroplasia in China.
[achondroplasia]
Achondroplasia
is
a
rare
autosomal
dominant
genetic
disease
.
Research
on
achondroplasia
in
China
,
however
,
has
received
little
emphasis
.
Around
80
-
90
%
of
cases
of
neonatal
achondroplasia
result
from
mutations
in
fibroblast
growth
factor
receptor
3
(
FGFR
3
)
according
to
polymerase
chain
reaction-
single
strand
conformation
polymorphism
(
PCR-SSCP
)
.
Recently
,
genetic
research
on
achondroplasia
in
China
made
a
major
breakthrough
by
revealing
two
novel
mutations
located
on
the
FGFR
3
gene
,
thus
helping
to
complete
the
pathological
molecular
map
of
achondroplasia
.
There
are
still
,
however
,
unknown
aspects
of
the
diagnosis
and
treatment
of
achondroplasia
.
This
review
will
summarize
advances
in
research
on
and
the
clinical
diagnosis
and
treatment
of
achondroplasia
in
China
.
