Article
Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.
Human mutation - 1 May 2017
Yang Chi-Fan, Wang Chung-Hsing, Siong H'ng Weng, Chang Chun-Ping, Lin Wei-De, Chen Yuan-Tsong, Wu Jer-Yuarn, Tsai Fuu-Jen
Abstract excerpt
Spondylocarpotarsal synostosis syndrome (SCT) is a distinct group of disorders characterized by short stature, disrupted vertebral segmentation with vertebral fusion, scoliosis, lordosis, carpal/tarsal synostosis, and lack of rib anomalies. Mutations in filamin B (FLNB) and MYH3 have been reported for autosomal-recessive and autosomal-dominant SCT, respectively. We present a family with two patients suffering...
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