Article
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
American journal of human genetics - 7 Jun 2018
Cameron-Christie Sophia R, Wells Constance F, Simon Marleen, Wessels Marja, Tang Candy Z N, Wei Wenhua, Takei Riku, Aarts-Tesselaar Coranne, Sandaradura Sarah, Sillence David O, Cordier Marie-Pierre, Veenstra-Knol Hermine E, Cassina Matteo, Ludwig Kathrin, Trevisson Eva, Bahlo Melanie, Markie David M, Jenkins Zandra A, Robertson Stephen P
Abstract excerpt
Spondylocarpotarsal synostosis syndrome (SCTS) is characterized by intervertebral fusions and fusion of the carpal and tarsal bones. Biallelic mutations in FLNB cause this condition in some families, whereas monoallelic variants in MYH3, encoding embryonic heavy chain myosin 3, have been implicated in dominantly inherited forms of the disorder. Here, five individuals without FLNB mutations from three families...
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