KEGG   VARIANT: 5728v3
Entry
5728v3                      Variant                                
Name
PTEN mutation
Type
Loss of function
Gene
PTEN  phosphatase and tensin homolog [KO:K01110]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601728
Network
nt06530  PI3K signaling
Disease
H01222  Cowden syndrome
H02723  Macrocephaly/autism syndrome
Reference
PMID:27860216
  Authors
Keppler-Noreuil KM, Parker VE, Darling TN, Martinez-Agosto JA
  Title
Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.
  Journal
Am J Med Genet C Semin Med Genet 172:402-421 (2016)
DOI:10.1002/ajmg.c.31531
Reference
PMID:15805158
  Authors
Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, Miles JH, Wang CH, Stratton R, Pilarski R, Eng C
  Title
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
  Journal
J Med Genet 42:318-21 (2005)
DOI:10.1136/jmg.2004.024646
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