Associated Papers
Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach.
P S et al.
Journal of Cellular Biochemistry, 2017
Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.
Yang CF et al.
Human Mutation, 2017
Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.
Girisha KM et al.
Bmc Medical Genetics, 2016
Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia.
Okumura A et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2013
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.
Daniel PB et al.
Human Mutation, 2012
Mutations in two regions of FLNB result in atelosteogenesis I and III.
Farrington-Rock C et al.
Human Mutation, 2006
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