Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Ocular manifestations in hereditary diseases with defects in DNA repair].
[werner syndrome]
DNA
repair
is
involved
in
maintaining
the
stability
of
the
genome
and
accurate
sending
of
genetic
information
.
DNA
repair
pathways
remove
many
DNA
damages
induced
by
endo-
and
exogenous
factors
.
There
are
several
DNA
repair
pathways
in
human
cells
,
including
base
or
nucleotide
excision
system
,
homologous
recombination
system
and
non-homologous
end
joining
.
Mutation
in
DNA
repair
genes
may
results
in
rare
genetic
disorders
,
including
Xeroderma
pigmentosum
,
Cockayne
syndrom
,
trichothiodystrophy
,
Nijmegen
syndrome
,
ataxia
teleangiectasia
,
Werner
syndrome
,
Bloom
syndrome
,
Rothmund-
Thomson
syndrome
.
These
diseases
may
be
associated
with
various
visual
disturbances
.
In
this
work
we
review
we
focus
on
human
genetic
diseases
linked
with
mutations
in
DNA
repair
genes
associated
with
visual
impairment
.
Diseases
Validation
Diseases presenting
"rare genetic disorders"
symptom
congenital adrenal hyperplasia
fabry disease
werner syndrome
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom