Article
Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients.
American journal of medical genetics. Part A - 1 Nov 2018
Piacitelli Andrew M, Jensen Dana M, Brandling-Bennett Heather, Gray Megan Mariner, Batra Maneesh, Gust Juliane, Thaker Ameet, Paschal Catherine, Tsuchiya Karen, Pritchard Colin C, Perkins Jonathan, Mirzaa Ghayda M, Bennett James T
Abstract excerpt
PIK3CA-related overgrowth spectrum (PROS) refers to a group of disorders of segmental overgrowth of a wide variety of tissues as well as venous and lymphatic malformations. Clinical and molecular diagnosis can be challenging due to phenotypic heterogeneity and difficulties detecting low-level mosaicism using standard methods. Here, we report a patient with a severe presentation of PIK3CA-related overgrowth with...
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