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Disease: Sclerosing bone dysplasia mental retardation

  • A case report of dysosteosclerosis observed from the prenatal period
  • A Japanese patient with a mild Lenz-Majewski syndrome
  • Bone fragility, amyotrophy, mental retardation and degenerative lesions of the central nervous system. A new familial disorder
  • Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis
  • Frontometaphyseal dysplasia and keloid formation without FLNA mutations
  • Human Genetics of Sclerosing Bone Disorders
  • Lenz majewskihyperostotic dwarfism: A Pakistani patient with atypical features
  • Mixed sclerosing bone dysplasia, small stature, seizure disorder, and mental retardation: a syndrome?
  • Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis
  • Stenosis of the cervical canal in craniodiaphyseal dysplasia
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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