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

Medulloblastoma in a Patient with Curry‐Jones Syndrome with a mosaic variant, c.1234C > T (p.Leu412Phe), in SMO.

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Bibliographic Details
Published in:Clinical genetics 2020-04, Vol.97 (4), p.670-671
Main Authors: Porath, Binu, Farooki, Sana, Gener, Melissa, Amudhavalli, Shivarajan Manickavasagam, Grote, Lauren, Cooley, Linda D., Ginn, Kevin, Farooqi, Midhat S.
Format: Article
Language:English
Subjects:
Medulloblastoma
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Description
Summary:Medulloblastoma in a Patient with Curry‐Jones Syndrome with a mosaic variant, c.1234C > T (p.Leu412Phe), in SMO.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13681