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

Biesecker, LG; Edwards, M; O'Donnell, S; Doherty, P; MacDougall, T; Tith, K; Kazakin, J; Schwartz, B

Biesecker, LG (corresponding author), NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA.

COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2020; 6 (1):

Abstract

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 front......

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