Subject Areas on Research
- A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.
- Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene.
- Multiple hereditary exostoses (MHE): elucidating the pathogenesis of a rare skeletal disorder through interdisciplinary research.
- Multiple hereditary exostosis and hedgehog signaling: implications for novel therapies.
- Timing of forearm deformity correction in a child with multiple hereditary exostosis.
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