Filamin B (FLNB) is a large dimeric actin-binding protein which crosslinks actin cytoskeleton
filaments into a dynamic structure. Up to present, pathogenic mutations in FLNB are solely …

Larsen syndrome (LRS) is a rare genetic disease associated with variable manifestations
including skeletal malformations, dislocations of the large joints, and notable changes in …

Cells' ability to sense mechanical cues in their environment is crucial for fundamental
cellular processes, leading defects in mechanosensing to be linked to many diseases. The …

The group of chondrodysplasia with multiple dislocations includes several entities,
characterized by short stature, dislocation of large joints, hand and/or vertebral anomalies …

Larsen syndrome is characterized by the dislocation of large joints and other less consistent
clinical findings. Heterozygous FLNB mutations account for the majority of Larsen syndrome …

We report the case of a male patient with Larsen syndrome found to be mosaic for a novel
point mutation in FLNB in whom it was possible to provide evidence‐based personalized …

Spondylocarpotarsal synostosis syndrome (SCT) is a distinct group of disorders
characterized by short stature, disrupted vertebral segmentation with vertebral fusion …

Congenital Deformities of the Hands and Upper Limbs and Associated Syndromes |
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