Results 21 to 30 of about 10,418 (205)
CRISPR/Cas9-Mediated Gene Correction in Osteopetrosis Patient-Derived iPSCs
Frontiers in Bioscience-Landmark, 2023 Background: Osteopetrosis represents a rare genetic disease with a wide range of clinical and genetic heterogeneity, which results from osteoclast failure. Although up to 10 genes have been identified to be related with osteopetrosis, the pathogenesis of
Dandan Li +11 more
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Clinical, genetic aspects and molecular pathogenesis of osteopetrosis
Вавиловский журнал генетики и селекции, 2023 Osteopetrosis (“marble bone”, ICD-10-78.2) includes a group of hereditary bone disorders distinguished by clinical variability and genetic heterogeneity.
D. D. Nadyrshina, R. I. Khusainova
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A rare case report of intermediate osteopetrosis and review of literature
Journal of Cleft Lip Palate and Craniofacial Anomalies, 2014 Osteopetrosis also known as "marble bone disease" is a group of rare genetic disorders caused by osteoclast failure, which ranges widely in severity.
Priyanka Verma +3 more
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Osteopetrosis: A rare cause of anemia
Hematology Reports, 2011 Normocytic anaemia is caused either by hypoproliferation of haemopoietic tissue or increased destruction of red cells. Osteopetrosis is a rare cause of anaemia.
Sreekala Sreehari +2 more
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Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians
Case Reports in Genetics, 2021 Osteopetrosis is a disorder characterized by high bone density, hepatosplenomegaly, visual and hearing loss, and anemia. Pycnodysostosis presents with short stature, acroosteolysis, and dense bones.
Parminder Kaur +4 more
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Journal of Orthopaedic Reports, 2022 Background: Osteopetrosis is a collection of illnesses with increased bone density on plain radiographs that are clinically and genetically heterogeneous.
Vikas Maheshwari +4 more
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Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report
Case Reports in Dentistry, 2013 Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton caused by the absence or malfunction of osteoclasts. Three distinct forms of the disease have been recognized, autosomal dominant osteopetrosis being the most ...
Priyanka Kant +2 more
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Clinicoradiological Findings of Benign Osteopetrosis: Report of Two New Cases
Journal of Dental Research, Dental Clinics, Dental Prospects, 2012 Osteopetrosis represents a heterogeneous group of rare, hereditary bone dysplasias that share the hallmark of increased bone density caused by osteoclast dysfunction. It can manifest through a spectrum of symptoms and severity, from neonatal onset with
Elahe Tohidi, Ali Bagherpour
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Annals of Medical Science and Research, 2022 Osteopetrosis is a rare inherited metabolic bone disease characterized by failure of osteoclasts to resorb bone leading to impairment of bone modeling and remodeling.
Niladri Das +6 more
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