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

Clin Genet. 2020 Apr;97(4):670-671. doi: 10.1111/cge.13681. Epub 2019 Dec 11.

Abstract

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

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / genetics
  • Craniofacial Abnormalities / pathology
  • Genetic Predisposition to Disease*
  • Humans
  • Infant
  • Infant, Newborn
  • Intestines / abnormalities*
  • Intestines / pathology
  • Male
  • Medulloblastoma / diagnosis*
  • Medulloblastoma / genetics
  • Medulloblastoma / pathology
  • Mutation
  • Skin Abnormalities / diagnosis*
  • Skin Abnormalities / genetics
  • Skin Abnormalities / pathology
  • Smoothened Receptor / genetics*
  • Syndactyly / diagnosis*
  • Syndactyly / genetics
  • Syndactyly / pathology

Substances

  • SMO protein, human
  • Smoothened Receptor

Supplementary concepts

  • Winter Shortland Temple syndrome