Two Children with macrocephaly, developmental delay, and PTEN mutation.
Schwab
Joel G
JG
Department of Pediatrics, University of Chicago, Illinois, USA. jschwab@peds.bsd. uchicago.edu
Pena
Loren
L
Waggoner
Darrel
D
Pytel
Peter
P
D002675:Child, Preschool; D002658:Developmental Disabilities / Q000150:complications; D006223:Hamartoma Syndrome, Multiple; D006257:Head / Q000002:abnormalities; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D051059:PTEN Phosphohydrolase / Q000235:genetics
D008565:Membrane Proteins; C446603:TPTE protein, human; D051059:PTEN Phosphohydrolase