Article
Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.
Clinical genetics - 1 Jul 2018
Salian S, Shukla A, Shah H, Bhat S N, Bhat V R, Nampoothiri S, Shenoy R, Phadke S R, Hariharan S V, Girisha K M
Abstract excerpt
The location and/or type of variants in FLNB result in a spectrum of osteochondrodysplasias ranging from mild forms, like spondylocarpotarsal synostosis syndrome and Larsen syndrome, to severe perinatal lethal forms, such as atelosteogenesis I and III and Boomerang dysplasia. Spondylocarpotarsal synostosis syndrome is characterized by disproportionate short stature, vertebral anomalies and fusion of carpal and...
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