title: High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome.
authors: Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Magdeburg, Germany.
authors: Ilse
authors: I
authors: Wieland
authors: Sigrid
authors: S
authors: Tinschert
authors: Martin
authors: M
authors: Zenker
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D006801:Humans; D008297:Male; D009030:Mosaicism; D009154:Mutation; D009506:Nevus / Q000150:complications / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D016715:Proteus Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D051057:Proto-Oncogene Proteins c-akt / Q000235:genetics*; D012878:Skin Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
chemical_list: C494918:AKT1 protein, human; D051057:Proto-Oncogene Proteins c-akt