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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
Reference
DiseaseOntology: Spondylocarpotarsal synostosis syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD03069 | O75369 | 2317 | FLNB | Filamin-B | Homo sapiens |
