• A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations
• A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia
• A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders
• Antenatal diagnosis of lethal skeletal dysplasias
• Atelosteogenesis type 1
• Atelosteogenesis type 2
• Atelosteogenesis type 3: the first patient in Japan and a survivor for more than 1 year
• Atelosteogenesis type I: autopsy findings
• Atelosteogenesis type III: a case report
• Atelosteogenesis type III: long term survival, prenatal diagnosis, and evidence for dominant transmission
• Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations
• Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue
• Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach
• Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism
• F-actin clustering and cell dysmotility induced by the pathological W148R missense mutation of filamin B at the actin-binding domain
• Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia
• Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans
• Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing
• Lethal and life-limiting skeletal dysplasias: Selected prenatal issues
• Pathogenetics of the human SLC26 transporters
• Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit
• Prenatal diagnosis of boomerang dysplasia
• Prenatal diagnosis of thanatophoric dysplasia in the second trimester: ultrasonography and other diagnostic modalities
• Prenatal sonographic features of fetal atelosteogenesis type 1
• Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1
• Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB
• Sulfate in fetal development