De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones.
Delatycki
M B
MB
Danks
A
A
Churchyard
A
A
Zhou
X-P
XP
Eng
C
C
D000328:Adult; D002528:Cerebellar Neoplasms / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D003393:Cranial Sutures / Q000002:abnormalities*; D005729:Ganglioneuroma / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D051059:PTEN Phosphohydrolase; D010375:Pedigree; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D017689:Polydactyly / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human