• <em>EXOC6B</em>-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity
• <em>FAM111A</em>-Related Skeletal Dysplasias
• A path to gigantism: Three-dimensional study of the sauropodomorph limb long bone shape variation in the context of the emergence of the sauropod bauplan
• Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling
• Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis
• Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features
• Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome
• Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature review
• FAM111 protease activity undermines cellular fitness and is amplified by gain-of-function mutations in human disease
• FAM111A induces nuclear dysfunction in disease and viral restriction
• FAM111A mutations result in hypoparathyroidism and impaired skeletal development
• Fetal skeletal dysplasias: sonographic indices associated with adverse outcomes
• Functions and evolution of FAM111 serine proteases
• Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta
• Kenny-Caffey syndrome and its related syndromes
• Madelung-type deformity in a female individual from the Merovingian Period in Central Germany: A rare finding or a rare disease?
• Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma
• Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome
• Osteocraniosplenic Syndrome-Hypomineralized Skull with Gracile Long Bones and Splenic Hypoplasia: A Case Report and Literature Review
• Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull
• Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66-year-old man
• The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport
• Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications