Prenatal diagnosis of Proteus syndrome: Diagnosis of anAKT1mutation from amniocytes

Abell, K; Tolusso, L; Smith, N; Hopkin, R; Vawter-Lee, M; Habli, M; Riddle, S; Calvo-Garcia, MA; Guan, QN; Bierbrauer, K; Hwa, V; Saal, HM

Abell, K (corresponding author), Cincinnati Childrens Hosp Med Ctr, Dept Human Genet, 3333 Burnet Ave, Cincinnati, OH 45229 USA.

BIRTH DEFECTS RESEARCH, 2020; 112 (19): 1733

Abstract

Proteus syndrome is a mosaic genetic overgrowth disorder caused by a postzygotic, mosaic activating mutation inAKT1. Rare prenatal presentations inclu......

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