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Genetic studies of craniofacial anomalies: clinical implications and applications.
[dentinogenesis imperfecta]
The
objective
of
the
study
was
to
overview
the
role
of
genetic
research
in
fostering
translational
studies
of
craniofacial
diseases
of
dental
interest
.
Background
information
is
presented
to
illustrate
influences
affecting
genetic
research
studies
of
Mendelian
diseases
.
Genetic
studies
of
amelogenesis
imperfecta
,
dentinogenesis
imperfecta
,
hereditary
gingival
fibromatosis
and
Papillon
Lefèvre
syndrome
are
reviewed
.
Findings
are
presented
to
illustrate
how
translational
applications
of
clinical
and
basic
research
may
improve
clinical
care
.
Clinical
and
basic
science
research
has
identified
specific
genes
and
mutations
etiologically
responsible
for
amelogenesis
imperfecta
,
dentinogenesis
imperfecta
,
hereditary
gingival
fibromatosis
and
Papillon
Lefèvre
syndrome
.
These
findings
are
enabling
researchers
to
understand
how
specific
genetic
alterations
perturb
normal
growth
and
development
of
dental
tissues
.
Identification
of
the
genetic
basis
of
these
conditions
is
enabling
clinicians
and
researchers
to
more
fully
understand
the
etiology
and
clinical
consequences
of
these
diseases
of
dental
importance
.
Findings
from
genetic
studies
of
dental
diseases
provide
a
basis
for
diagnostic
genetic
testing
and
development
of
therapeutic
intervention
strategies
directed
at
the
underlying
disease
etiology
.
These
studies
are
advancing
our
understanding
of
the
development
of
dental
tissues
in
health
and
disease
.
The
dental
community
must
consider
how
to
incorporate
these
developments
into
effective
disease
prevention
paradigms
to
facilitate
the
diagnosis
and
treatment
of
individuals
with
genetic
diseases
.
Diseases
Validation
Diseases presenting
"dental importance"
symptom
dentinogenesis imperfecta
papillon-lefèvre syndrome
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