Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia

ConclusionThis case underlines the variability of phenotypes associated withPTEN germline mutations and provides useful information for diagnosis and genetic counseling ofPTEN‐related diseases for pediatric patients.

Source: Molecular Genetics & Genomic Medicine - January 22, 2020 Category: Genetics & Stem Cells Authors: Jidong Liu, Guolian Ding, Kexin Zou, Ziru Jiang, Junyu Zhang, Yunhua Lu, Antonella Pignata, Eric Venner, Pengfei Liu, Zhandong Liu, Michael F. Wangler, Zheng Sun Tags: CLINICAL REPORT Source Type: research