What's New

Last Posted: Sep 02, 2021

• Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.
  Sabir Ataf et al. British medical bulletin 2021
• Genetic testing is useful in adults with limited phenotypes of genetic skeletal conditions.
  Cottard Marie et al. Bone 2019 Dec 115218
• Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group.
  Wu Calvin C et al. The Journal of clinical endocrinology and metabolism 2017 102(9) 3111-3123
• The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.
  Shamriz O et al. Clinical genetics 2017 Jul 92(1) 80-85
• Osteopetrosis
  From NCATS Genetic and Rare Diseases Information Center
• Osteopetrosis and infantile neuroaxonal dystrophy
  From NCATS Genetic and Rare Diseases Information Center
• Osteopetrosis autosomal dominant type 1
  From NCATS Genetic and Rare Diseases Information Center
• Osteopetrosis autosomal dominant type 2
  From NCATS Genetic and Rare Diseases Information Center
• Osteopetrosis autosomal recessive 1
  From NCATS Genetic and Rare Diseases Information Center
• Osteopetrosis autosomal recessive 2
  From NCATS Genetic and Rare Diseases Information Center

More