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
Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome
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DOI: 10.3390/genes12040528
Abstract: Spondylocarpotarsal synostosis syndrome (SCT) is characterized by vertebral fusions, a disproportionately short stature, and synostosis of carpal and tarsal bones. Pathogenic variants in FLNB, MYH3, and possibly in RFLNA, have been reported to be responsible… read more here.
Keywords: synostosis; spondylocarpotarsal synostosis; intragenic deletions; synostosis syndrome ... See more keywords