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Article

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.

Human molecular genetics - 1 Mar 2008

Farrington-Rock Claire, Kirilova Veneta, Dillard-Telm Lisa, Borowsky Alexander D, Chalk Sara, Rock Matthew J, Cohn Daniel H, Krakow Deborah

Abstract excerpt

Spondylocarpotarsal synostosis syndrome (SCT) is an autosomal recessive disease that is characterized by short stature, and fusions of the vertebrae and carpal and tarsal bones. SCT results from homozygosity or compound heterozygosity for nonsense mutations in FLNB. FLNB encodes filamin B, a multifunctional cytoplasmic protein that plays a critical role in skeletal development. Protein extracts derived from cells...

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Source

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Identifiers

PMID: 17635842
DOI: 10.1093/hmg/ddm188
PMCID: PMC2680151

Genes

SCT
FLNB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.PMID 17635842Read ↗

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