Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding.
Departments of Neurology Radiology, Children's University Hospital National Centre for Medical Genetics, Our Lady's Children's Hospital, Dublin, Ireland.
Declan John
DJ
O'Rourke
Eilish
E
Twomey
Sally-Ann
SA
Lynch
Mary D
MD
King
D000328:Adult; D019943:Amino Acid Substitution; D001921:Brain / Q000473:pathology; D005091:Exons; D006223:Hamartoma Syndrome, Multiple / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications* / Q000235:genetics*; D009154:Mutation; D051059:PTEN Phosphohydrolase / Q000235:genetics*
D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human