Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes.
Beyhan TüysüzDilek Uludag AlkayaFiliz GeyikMerve AlaylıoğluBusra KasapSebuh KurugoğluYunus Emre AkmanMehmet VuralKaya BilguvarPublished in: Journal of medical genetics (2022)
pathogenic variants are causative for the observed phenotype.