Disease: Spondylocarpotarsal synostosis
- <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 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>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
- 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