title: Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.
authors.affiliation: Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA. nicolab@bcm.tmc.edu
authors.forename: Nicola
authors.initials: N
authors.lastname: Brunetti-Pierri
authors.forename: Valentina
authors.initials: V
authors.lastname: Esposito
authors.forename: Daniele
authors.initials: D
authors.lastname: De Brasi
authors.forename: Dario Maria
authors.initials: DM
authors.lastname: Mattiacci
authors.forename: Deborah
authors.initials: D
authors.lastname: Krakow
authors.forename: Brendan
authors.initials: B
authors.lastname: Lee
authors.forename: Mariacarolina
authors.initials: M
authors.lastname: Salerno
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology; D018389:Codon, Nonsense; D003285:Contractile Proteins / Q000235:genetics*; D005260:Female; D064448:Filamins; D019382:Human Growth Hormone / Q000172:deficiency; D006801:Humans; D008840:Microfilament Proteins / Q000235:genetics*; D010985:Platybasia / Q000235:genetics / Q000473:pathology; D013131:Spine / Q000473:pathology; D013577:Syndrome; D013580:Synostosis / Q000235:genetics* / Q000473:pathology
chemical_list: D018389:Codon, Nonsense; D003285:Contractile Proteins; C578662:FLNB protein, human; D064448:Filamins; D008840:Microfilament Proteins; D019382:Human Growth Hormone