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Browse result for Spondylocarpotarsal synostosis syndrome

※ introduction

    A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3.

Reference
DiseaseOntology: Spondylocarpotarsal synostosis syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD03069O753692317
FLNB
Filamin-B
Homo sapiens