Medulloblastoma associated with novel PTCH mutation as primary manifestation of Gorlin syndrome.
Crawford
John R
JR
Department of Neurology, Children's National Medical Center, The George Washington University, Washington, DC 20010, USA. jcrawfor@cnmc.org
Rood
Brian R
BR
Rossi
Christopher T
CT
Vezina
Gilbert
G
D001478:Basal Cell Nevus Syndrome / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D004388:Dura Mater / Q000000981:diagnostic imaging / Q000473:pathology; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008527:Medulloblastoma / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics*; D014057:Tomography, X-Ray Computed
D018389:Codon, Nonsense; D005819:Genetic Markers; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface