Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3

Sophia R Cameron-Christie, Constance F Wells, Marleen Simon, Marja Wessels, Candy Z N Tang, Wenhua Wei, Riku Takei, Coranne Aarts-Tesselaar, Sarah Sandaradura, David O Sillence, Marie-Pierre Cordier, Hermine E Veenstra-Knol, Matteo Cassina, Kathrin Ludkig, Eva Trevisson, Melanie Bahlo, David M Markie, Zandra A Jenkins, Stephen P Robertson

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Biochemistry, Genetics and Molecular Biology