Medulloblastoma associated with novel PTCH mutation as primary manifestation of gorlin syndrome

Neurology

Volumn 72, Issue 18, 2009, Pages 1618-

  Crawford, John R ^a   Rood, Brian R ^a   Rossi, Christopher T ^a   Vezina, Gilbert ^a  

^a GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN PATCHED; CELL SURFACE RECEPTOR; PATCHED RECEPTORS;

ANAMNESIS; ARTICLE; BASAL CELL NEVUS SYNDROME; CASE REPORT; CHILD; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CORPUS CALLOSUM; GENE MUTATION; HISTOPATHOLOGY; HUMAN; MALE; MEDULLOBLASTOMA; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; BRAIN; CALCINOSIS; DURA MATER; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; RADIOGRAPHY; STOP CODON;

BASAL CELL NEVUS SYNDROME; BRAIN; CALCINOSIS; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DURA MATER; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MEDULLOBLASTOMA; RECEPTORS, CELL SURFACE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 67649388503     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181a413d6     Document Type: Article

References (2)

1. Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B. Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. Genet Med 2004;6:495-502.
2. Epstein EH. Basal cell carcinomas: attack of the hedgehog. Nat Rev Cancer 2008;10:743-754.