Open AccessCognitive characteristics of PTEN hamartoma tumor syndromes
Author(s) -
Robyn M. Busch,
Jessica S. Chapin,
Jessica L. Mester,
Lisa Ferguson,
Jennifer S. Haut,
Thomas Frazier,
Charis Eng
Publication year - 2013
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1038/gim.2013.1
Subject(s) - pten , cowden syndrome , cognition , intelligence quotient , intellectual disability , neuropsychology , clinical psychology , psychology , medicine , psychiatry , genetics , biology , pi3k/akt/mtor pathway , apoptosis
We sought to characterize cognition in individuals with germline PTEN mutations (n = 23) as well as in PTEN mutation-negative individuals with classic Cowden syndrome or Bannayan-Riley-Ruvalcaba syndrome (n = 2).
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