A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia.

Abstract

"Disorganized Development of Skeletal Component" (DDSC) is a group of genetic skeletal dysplasia, caused by mutations in 9 genes including ACVR1. The most known ACVR1-related disorder is fibrodysplasia ossificans progressiva (FOP). FOP variants are frequently encountered with diagnostic challenges due to overlapping clinical manifestations and variable… (More)
DOI: 10.1016/j.ejmg.2016.05.007

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