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Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.
[holt-oram syndrome]
We
report
on
a
combination
of
congenital
malformations
in
a
mother
and
her
fetus
harboring
a
heterozygous
deletion
encompassing
the
TBX
5
and
TBX
3
genes
,
which
are
disease-causing
in
Holt
-
Oram
and
ulnar
-mammary
syndromes
,
respectively
.
This
contiguous
gene
syndrome
is
reminiscent
of
Okihiro
syndrome
and
emphasizes
the
importance
of
array-
CGH
as
a
diagnostic
tool
in
atypical
syndromic
presentations
with
intrafamilial
variability
.
Diseases
Validation
Diseases presenting
"respectively"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
epidermolysis bullosa simplex
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
harlequin ichthyosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
kallmann syndrome
lamellar ichthyosis
liposarcoma
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
triple a syndrome
von hippel-lindau disease
well-differentiated liposarcoma
wolf-hirschhorn syndrome
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