Identification of a novel pathogenic variant in the MYH3 gene in a five‐generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A)
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DOI: 10.1002/mgg3.1440
Abstract: Distal arthrogryposis (DA) is a group of rare Mendelian conditions that demonstrate heterogeneity with respect to genetics and phenotypes. Ten types of DAs, which collectively involve six genes, have been reported. Among them, the MYH3… read more here.
Keywords: pterygia spondylocarpotarsal; five generation; spondylocarpotarsal fusion; contractures pterygia ... See more keywords