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Article

Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092).

Cold Spring Harbor molecular case studies - 1 Feb 2020

Biesecker Leslie G, Edwards Matthew, O'Donnell Sheridan, Doherty Paula, MacDougall Thomas, Tith Kate, Kazakin Julia, Schwartz Brian

Abstract excerpt

A 20-yr-old man with Proteus syndrome (PS) and somatic mosaicism of the AKT1 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,...

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Identifiers

PMID: 32014856
DOI: 10.1101/mcs.a004549
PMCID: PMC6996520

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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