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OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
Known as:
OPTB3
, Carbonic anhydrase 2 deficiency
, GUIBAUD-VAINSEL SYNDROME
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A rare, autosomal recessive inherited disorder caused by mutation in the CA2 gene. It is characterized by osteopetrosis, renal tubular acidosis, and…
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National Institutes of Health
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Related topics
Related topics
6 relations
CA2 gene
Carbonic Anhydrase II
Broader (4)
CARBONATE DEHYDRATASE
Osteopetrosis
Renal tubular acidosis
Urea Cycle Disorders, Inborn
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Autosomal recessive osteopetrosis type I : description of pathogenic variant of TCIRG 1 gene
L. E. Chávez-Güitrón
,
Tadeo Cerón-Torres
,
C. Sobacchi
,
Echael Ochoa-Ruiz
,
Sugey Villegas-Huesca
2018
Corpus ID: 92363146
Background: Autosomal malignant osteopetrosis is a rare condition arising from dysfunction of bone-resorbing osteoclasts, in…
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2009
2009
Progressive Mixed Type Hearing Loss in an Adult Male with Osteopetrosis
J. Gniady
,
M. Ronis
2009
Corpus ID: 58524436
• Notably: • There are two case series in the Otolaryngology literature, but both are restricted to the infant and juvenile forms…
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2008
2008
Osteopetrorickets- Osteopetrosis with rickets, a rare paradoxical association
K. Umesh
,
J.c Rajesh
2008
Corpus ID: 89358249
Osteopetrosis is an extremely rare inhereditory bone disorder, in which defective bone resorption by osteoclasts leads to…
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1994
1994
Establishment of interference in osteoblasts by an osteopetrosis-inducing avian leukosis virus.
R. G. Foster
,
H. Robinson
Virology
1994
Corpus ID: 45037569
Avian leukosis virus (ALV)-induced osteopetrosis is characterized by the presence of unintegrated viral DNA is diseased bone. To…
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1992
1992
Autosomal recessive osteopetrosis: bone marrow imaging.
A. D. Elster
,
E. G. Theros
,
L. Key
,
C. Stanton
Radiology
1992
Corpus ID: 36293117
Technetium-99m sulfur colloid scintigraphy was performed prospectively in 12 infants and children with autosomal recessive…
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1987
1987
Bone marrow transplantation in precocious osteopetrosis.
N. Nisbet
British medical journal
1987
Corpus ID: 45087140
Childhood depression may be prevented to some extent by minimising bond disruption and promoting healthy mourning. Young children…
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1986
1986
Sequences near the 5' long terminal repeat of avian leukosis viruses determine the ability to induce osteopetrosis
H. Robinson
,
S. Reinsch
,
P. Shank
Journal of Virology
1986
Corpus ID: 34343916
Avian leukosis virus (ALV)-induced osteopetrosis is associated with the accumulation of unintegrated viral DNA in osteoblasts…
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1985
1985
Brain calcification in Kallman's syndrome. Computed tomographic appearance.
J. Malát
,
C. Virapongse
Pediatric Neuroscience
1985
Corpus ID: 11746071
We report a 21-year-old white male with Kallman's syndrome (gonadotropic hypogonadism, hyposmia and sensorineural hearing loss…
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1982
1982
[Recessive osteopetrosis with cerebral calcifications. Study of 3 adult subjects in 2 consanguineous families].
G. Leone
La Radiologia medica
1982
Corpus ID: 32805228
1943
1943
The Avian Leucosis Complex: A Note on Avain Osteopetrosis.
J. Bieley
Canadian journal of comparative medicine and…
1943
Corpus ID: 29483059
HE AVIAN leucosis complex, a disease of the domestic chicken, may manifest itself in a number of obscure ways.. According to…
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