Associated Papers
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.
Rehder H et al.
American Journal of Medical Genetics. Part A, 2018
Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing.
Seppälä J et al.
Scientific Reports, 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
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