Article
Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia.
Molecular genetics & genomic medicine - 1 Mar 2020
Liu Jidong, Ding Guolian, Zou Kexin, Jiang Ziru, Zhang Junyu, Lu Yunhua, Pignata Antonella, Venner Eric, Liu Pengfei, Liu Zhandong, Wangler Michael F, Sun Zheng
Abstract excerpt
BACKGROUND: Germline mutations in PTEN are associated with the PTEN hamartoma tumor syndrome (PHTS), an umbrella term used to describe a spectrum of autosomal-dominant disorders characterized by variable phenotypic manifestations associated with cell or tissue overgrowth. We report a boy who developed severe progressive abdominal distention due to a dramatic adipose mass from the age of 7 months and developed...
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