Rare Diseases Symptoms Automatic Extraction
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Kindler syndrome: report of two cases.
[kindler syndrome]
Kindler
syndrome
is
a
rare
autosomal
recessive
genodermatosis
characterized
by
trauma-induced
blisters
,
progressive
poikiloderma
and
varying
degrees
of
photosensitivity
.
In
2003
,
loss
-of-function
mutations
were
identified
in
the
gene
KIND
1
mapped
to
chromosome
20
p
12
.
3
.
In
this
paper
,
we
report
Kindler
syndrome
in
two
children
born
to
consanguineous
parents
presenting
acral
blistering
,
photosensitivity
,
poikiloderma
,
cutaneous
atrophy
and
periodontitis
.
Diseases
Validation
Diseases presenting
"loss-of-function mutations"
symptom
achondroplasia
alpha-thalassemia
aromatase deficiency
child syndrome
cowden syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
esophageal adenocarcinoma
familial hypocalciuric hypercalcemia
harlequin ichthyosis
hirschsprung disease
kallmann syndrome
kindler syndrome
lamellar ichthyosis
neonatal adrenoleukodystrophy
pendred syndrome
werner syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated