WebNM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) AND FLNB-Related Spectrum Disorders Clinical significance: Likely benign (Last evaluated: Jan 13, 2024) Review status: 1 star … WebJun 5, 2024 · The authors noted that most lethal FLNB-related disorders are caused by de novo mutations, and thus there is a low risk of recurrence in subsequent pregnancies. In 7 families with SCT syndrome, Salian et al. (2024) identified 2 nonsense and 5 frameshift variants in the FLNB gene (see, e.g., 603381.0016), all in homozygous state.
FLNB Disorders - GeneReviews® - NCBI Bookshelf
WebNov 26, 2024 · FLNB is a multidomain monomer protein with domains containing an actin-binding N-terminal domain (ABD 1-242), encompassing two calponin-homology domains … WebHere, we present two unrelated individuals presenting with features typical of SCT in which Sanger sequencing combined with whole genome sequencing identified novel, homozygous intragenic deletions in FLNB (c.1346-1372_1941+389del and c.3127-353_4223-1836del). phil tufnell youtube
Larsen Syndrome - Symptoms, Causes, Treatment NORD
WebNM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) AND FLNB-Related Spectrum Disorders Clinical significance: Likely benign (Last evaluated: Jan 13, 2024) Review status: 1 star out of maximum of 4 stars WebJul 4, 2024 · Our data expanded the mutation spectrum of FLNB and promoted better understanding of the pathogenesis and the clinical heterogeneity of FLNB-related … WebEurope PMC is an archive of life sciences journal literature. Clinical characteristics. The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) … phil tufts attorney indiana