Flnb-related spectrum disorders
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) … 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 …
Flnb-related spectrum disorders
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WebThese findings expand the phenotypic spectrum resulting from mutations in FLNB and underline the central role this protein plays during skeletogenesis in humans. ... Given the radiographic, phenotypic, and histological evidence suggesting that boomerang dysplasia is related to disorders caused by mutations in genes encoding filamins, ... WebJan 6, 2024 · Background Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature, fused vertebrae and fusion of carpal and tarsal bones. We present a novel FLNB …
WebThe BD phenotype is similar to a group of disorders including atelosteogenesis I, atelosteogenesis III, and dominantly inherited Larsen syndrome that we have recently … WebFLNB. Filamin B, beta (FLNB), also known as Filamin B, beta (truncated actin binding protein 278 homolog), is a cytoplasmic protein which in humans is encoded by the FLNB gene . FLNB regulates intracellular communication and signalling by cross-linking the protein actin to allow direct communication between the cell membrane and cytoskeletal ...
WebApr 5, 2024 · The location and/or type of variants in FLNB result in a spectrum of osteochondrodysplasias ranging from mild forms, like spondylocarpotarsal synostosis syndrome and Larsen syndrome, to severe ...
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 …
WebFeb 13, 2024 · Clinical characteristics: The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal … cummings health and rehabWebHere, 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). east west medical college bangladeshWebFLNB-Related Spectrum Disorders 1 0: 168 56 ... Connective tissue disorder 0: 2 27 17 15 0: 61 Larsen syndrome 7 6 8 ... east west mekong company limitedWebJan 6, 2024 · Overview. Autism spectrum disorder is a condition related to brain development that impacts how a person perceives and socializes with others, causing problems in social interaction and communication. The disorder also includes limited and repetitive patterns of behavior. The term "spectrum" in autism spectrum disorder refers … cummingshavenWebApr 11, 2024 · Autism is a neurodevelopmental disorder of the brain function that affects the person’s speech, communication, interaction, learning, and behavior. It is a complex disease with diverse etiology and multiple factors. They are neurodevelopmental disorders because it generally occurs in the first two years of life. cummings hall morgan state universityWebNM_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 east west medical college bangaloreWebNM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg) AND FLNB-Related Spectrum Disorders Clinical significance: Likely benign (Last evaluated: Jan 13, 2024) Review status: 1 star out of maximum of 4 stars cummings hawaii