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Occurrence and characterization of medulloblastoma in a patient with Curry-Jones syndrome.

Binu PorathSana FarookiMelissa GenerShivarajan Manickavasagam AmudhavalliLauren GroteLinda D CooleyKevin GinnMidhat S Farooqi
Published in: Clinical genetics (2019)
Medulloblastoma in a Patient with Curry-Jones Syndrome with a mosaic variant, c.1234C > T (p.Leu412Phe), in SMO.
Keyphrases
  • case report
  • risk assessment