Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.
Brunetti-Pierri
Nicola
N
Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA. nicolab@bcm.tmc.edu
Esposito
Valentina
V
De Brasi
Daniele
D
Mattiacci
Dario Maria
DM
Krakow
Deborah
D
Lee
Brendan
B
Salerno
Mariacarolina
M
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
D018389:Codon, Nonsense; D003285:Contractile Proteins; C578662:FLNB protein, human; D064448:Filamins; D008840:Microfilament Proteins; D019382:Human Growth Hormone