• <em>FLNB</em> Disorders
• A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14
• A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions
• A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination
• A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome
• A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFbeta signaling and cause autosomal dominant spondylocarpotarsal synostosis
• A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis
• A Stop-gain Variant c.220C&gt;T (p.(Gln74*)) in <em>FLNB</em> Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family
• A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family
• An unusual case of congenital scoliosis in a patient with Down syndrome
• Atlanto-axial rotatory fixation in a girl with Spondylocarpotarsal synostosis syndrome
• Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity
• Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
• Bioinformatics Analysis and Experimental Verification Identify Downregulation of COL27A1 in Poor Segmental Congenital Scoliosis
• Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains
• Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome
• Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father
• Fetal alcohol syndrome: a phenocopy of spondylocarpotarsal synostosis syndrome?
• Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies
• Filamin B represses chondrocyte hypertrophy in a Runx2/Smad3-dependent manner
• Filamin B: The next hotspot in skeletal research?
• Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome
• Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A)
• Intragenic Deletions in <em>FLNB</em> Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome
• Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome
• Musculoskeletal defects associated with myosin heavy chain-embryonic loss of function are mediated by the YAP signaling pathway
• MYH3-associated distal arthrogryposis zebrafish model is normalized with para-aminoblebbistatin
• Novel FLNB Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis Syndrome
• Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome?
• Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome
• Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome
• Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3
• Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3
• Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB
• Spondylocarpotarsal synostosis syndrome
• Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar)
• Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar)
• Spondylocarpotarsal synostosis syndrome and cervical instability
• Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report
• Spondylocarpotarsal synostosis syndrome: "Bat wings" spinal fusions and "ladybug" carpal coalitions
• Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation
• Spondylocarpotarsal synostosis syndrome. A rare case of short stature and congenital scoliosis
• Spondylocarpotarsal synostosis with epiphyseal dysplasia
• Spondylocarpotarsal synostosis with hydromyelia, mega cisterna magna, and pachydermoperiostosis
• Spondylocarpotarsal synostosis with ocular findings
• Spondylocarpotarsal synostosis: a rare case of vertebral segmentation defect
• Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations
• TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions
• Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies
• Three-Dimensional Analysis of Hemimetameric Segmental Shift in Congenital Scoliosis
• Unusual facies, thumb hypoplasia, distinctive spinal fusions and extraspinal mobility limitation, in a pair of monozygotic twins
• Urolithiasis in a child with Spondylocarpotarsal Synostosis Syndrome: A Co-Incidence