Search results for skeletal dysplasia

Medical research

A nuclear gatekeeper that regulates bone formation

Important insights into the cellular processes underlying healthy bone formation and development have been gleaned by a RIKEN-led study into a previously unknown bone disorder1.

Medical research

Skeletal defects may be ameliorated after immobility in the womb

Researchers from Trinity College Dublin have discovered that some skeletal defects associated with a lack of movement in the womb during early development may still be ameliorated after such periods of immobility if movement ...

Genetics

New taxonomy of non-skeletal rare disorders with impact on bone

Thanks to major progress in the understanding and management of rare congenital diseases and syndromes, many patients with these rare disorders are now living longer lives. With this progress it has become apparent that many ...

Genetics

Molecular cause for severe multi-organ syndrome

Three unrelated families on three continents (from continental Portugal, the United States and Brazil), all with healthy ancestors, had children with a very rare multi-organ condition that causes early-onset retinal degeneration, ...

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