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Occurrence and characterization of medulloblastoma in a patient with Curry-Jones syndrome.
- Source :
-
Clinical genetics [Clin Genet] 2020 Apr; Vol. 97 (4), pp. 670-671. Date of Electronic Publication: 2019 Dec 11. - Publication Year :
- 2020
-
Abstract
- Medulloblastoma in a Patient with Curry-Jones Syndrome with a mosaic variant, c.1234C > T (p.Leu412Phe), in SMO.<br /> (© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Subjects :
- Craniofacial Abnormalities genetics
Craniofacial Abnormalities pathology
Humans
Infant
Infant, Newborn
Intestines pathology
Male
Medulloblastoma genetics
Medulloblastoma pathology
Mutation
Skin Abnormalities genetics
Skin Abnormalities pathology
Syndactyly genetics
Syndactyly pathology
Craniofacial Abnormalities diagnosis
Genetic Predisposition to Disease
Intestines abnormalities
Medulloblastoma diagnosis
Skin Abnormalities diagnosis
Smoothened Receptor genetics
Syndactyly diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1399-0004
- Volume :
- 97
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Clinical genetics
- Publication Type :
- Report
- Accession number :
- 31825089
- Full Text :
- https://doi.org/10.1111/cge.13681