Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds

Hematopoietic stem cell transplantation for infantile osteopetrosis

(2015) P. J. Orchard et al.   BLOOD

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis

(2015) Eleonora Palagano et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Improved Outcomes of Hematopoietic Stem Cell Transplantation in Patients With Infantile Malignant Osteopetrosis Using Fludarabine-Based Conditioning

(2015) Juma Natsheh et al.   PEDIATRIC BLOOD & CANCER

Radiologic resolution of malignant infantile osteopetrosis skeletal changes following hematopoietic stem cell transplantation

(2015) Amir Pejman Hashemi Taheri et al.   PEDIATRIC BLOOD & CANCER

Osteopetrosis: genetics, treatment and new insights into osteoclast function

(2013) Cristina Sobacchi et al.   Nature Reviews Endocrinology

SNX10mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity

(2012) Alessandra Pangrazio et al.   JOURNAL OF BONE AND MINERAL RESEARCH

AnSNX10mutation causes malignant osteopetrosis of infancy

(2012) Memet Aker et al.   JOURNAL OF MEDICAL GENETICS

Scarcity Despite Wealth: Osteopetrorickets

(2010) Fatma Demirel et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect

(2009) Elena A Bliznetz et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Osteopetrosis

(2009) Zornitza Stark et al.   Orphanet Journal of Rare Diseases

Osteopetrorickets: infantile malignant osteopetrosis paradoxically complicated by rickets

(2009) Deepa R. Biyyam et al.   PEDIATRIC RADIOLOGY

Patients with autosomal-recessive osteopetrosis presenting with hydrocephalus and hindbrain posterior fossa crowding

(2008) Yahia Z. Al-Tamimi et al.   Journal of Neurosurgery-Pediatrics