Novel PTCH1 Mutation in a Young Child With Gorlin Syndrome and Medulloblastoma

Pediatr Blood Cancer. 2016 Jun;63(6):1128-9. doi: 10.1002/pbc.25913. Epub 2016 Feb 3.

Authors

Nicholas J Gloude¹, Janet M Yoon¹, John R Crawford^{1

2}

Affiliations

¹ Division of Hematology-Oncology, Department of Pediatrics, Rady Children's Hospital-San Diego, University of California, San Diego, San Diego, California.
² Department of Neurosciences, Rady Children's Hospital-San Diego, University of California, San Diego, California.

PMID: 26840755
DOI: 10.1002/pbc.25913

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Basal Cell Nevus Syndrome / genetics*
Cerebellar Neoplasms / genetics*
Child, Preschool
Humans
Male
Medulloblastoma / genetics*
Mutation
Patched Receptors
Patched-1 Receptor
Receptors, Cell Surface / genetics*

Substances

PTCH1 protein, human
Patched Receptors
Patched-1 Receptor
Receptors, Cell Surface