Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome
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DOI: 10.1038/s10038-019-0581-9
Abstract: Spondylocarpotarsal synostosis syndrome, a rare syndromic skeletal disorder characterized by disrupted vertebral segmentation with vertebral fusion, scoliosis, short stature, and carpal/tarsal synostosis, has been associated with biallelic truncating mutations in the filamin B gene or… read more here.
Keywords: typical phenotype; synostosis; phenotype spondylocarpotarsal; spondylocarpotarsal synostosis ... See more keywords