Associated Papers
A comprehensive report of the clinical and mutational profiles of 30 Iranian malignant infantile osteopetrosis patients.
Amirfiroozy A et al.
Molecular and Cellular Probes, 2025
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM5_ESM.xlsx › Feuil1
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.
Lanzi G et al.
Stem Cell Research, 2020
Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families.
Zhang XY et al.
Acta Pharmacologica Sinica, 2017
Malignant infantile osteopetrosis: case report with review of literature.
Essabar L et al.
The Pan African Medical Journal, 2014
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