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Year | Number of Results |
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Clinical presentation and analysis of genotype-phenotype correlations in patients with malignant infantile osteopetrosis.
Bone. 2022 Jan;154:116229. doi: 10.1016/j.bone.2021.116229. Epub 2021 Oct 8.
Bone. 2022.
PMID: 34624559
Malignant infantile osteopetrosis (MIOP) is the autosomal recessive, severe form of osteopetrosis. ...The most common genetic mutation was in the TCIRG1 gene (n = 46, 56.8%), followed by SNX10 (n = 20, 25%). Other genetic mutations included RANK (n = …
Malignant infantile osteopetrosis (MIOP) is the autosomal recessive, severe form of osteopetrosis. ...The most c …
Osteopetrosis: a single centre experience of stem cell tranisplantation and prenatal diagnosis.
Kapelushnik J, Shalev C, Yaniv I, Aker M, Carmi R, Cohen Z, Mozer A, Schulman C, Stein G, Or R.
Kapelushnik J, et al.
Bone Marrow Transplant. 2001 Jan;27(2):129-32. doi: 10.1038/sj.bmt.1702743.
Bone Marrow Transplant. 2001.
PMID: 11281380
Malignant osteopetrosis (MOP) is an autosomal recessive disease in which osteoclast dysfunction results in excessive bone deposition and early infant death. ...In the other case the parents refused and after establishing the diagnosis, the newborn was transpl …
Malignant osteopetrosis (MOP) is an autosomal recessive disease in which osteoclast dysfunction results in excessive bo …
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Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.
Shah GN, Bonapace G, Hu PY, Strisciuglio P, Sly WS.
Shah GN, et al.
Hum Mutat. 2004 Sep;24(3):272. doi: 10.1002/humu.9266.
Hum Mutat. 2004.
PMID: 15300855
The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features include developmental delay, short stature, cognitive defects, and a histo …
The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder that produces osteopetrosis, r …
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