Associated Papers
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A et al.
Orphanet Journal of Rare Diseases, 2021
34627339 (PubMed )
Supplement: 13023_2021_2025_MOESM1_ESM.xlsx › Sheet2
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
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.
Bernkopf M et al.
Human Mutation, 2017
F-actin clustering and cell dysmotility induced by the pathological W148R missense mutation of filamin B at the actin-binding domain.
Zhao Y et al.
American Journal of Physiology. Cell Physiology, 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
Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene.
Winer N et al.
Prenatal Diagnosis, 2009
Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation.
Dobbs MB et al.
Clinical Orthopaedics and Related Research, 2008
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
Bicknell LS et al.
Journal of Medical Genetics, 2007
Mutations in two regions of FLNB result in atelosteogenesis I and III.
Farrington-Rock C et al.
Human Mutation, 2006
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