ESPE Abstracts

Background: FLNB encodes filamin B (FLNB), a protein expressed in human growth plate chondrocytes, building the cytoskeleton that gives structure to cells and allows them to change shape and move. Biallelic loss-of-function mutations in FLNB result in spondylocarpotarsal synostosis (SCT; OMIM: 272460), while heterozygous null mutations related isolated short stature (ISS) have not been well described previously.Objective:</strong...