Associated Papers
Clinical profiles and molecular genetic analyses of 98 Chinese children with short statures.
Fang D et al.
Frontiers in Genetics, 2024
A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.
Shahid H et al.
The Yale Journal of Biology and Medicine, 2023
37781000 (PubMed )
Supplement: yjbm_96_3_383_appendixB.pdf
Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report.
Yasin S et al.
Bmc Musculoskeletal Disorders, 2021
Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.
Salian S et al.
Clinical Genetics, 2018
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
Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.
Farrington-Rock C et al.
Human Molecular Genetics, 2008
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