Ontology highlight
ABSTRACT:
SUBMITTER: Biesecker LG
PROVIDER: S-EPMC6996520 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Biesecker Leslie G LG Edwards Matthew M O'Donnell Sheridan S Doherty Paula P MacDougall Thomas T Tith Kate K Kazakin Julia J Schwartz Brian B
Cold Spring Harbor molecular case studies 20200203 1
A 20-yr-old man with Proteus syndrome (PS) and somatic mosaicism of the <i>AKT1</i> c.49G > A p.(E17K) variant had asymmetric overgrowth of the right frontal and facial bones, asymmetric spinal overgrowth with thoracolumbar scoliosis, dilatation of the inferior vena cava, testicular cystadenoma, bilateral knee deformities, macrodactyly, and apparent intellectual disability. Miransertib (ARQ 092) is an oral, allosteric, selective pan-AKT inhibitor initially developed for cancer therapeutics, now ...[more]