• A common pathomechanism in GMAP-210- and LBR-related diseases
• A Novel Mutation in the <em>TRIP11</em> Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia
• Achondrogenesis type 1A--from mouse to human
• Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis
• Achondrogenesis Type 2 in a Newborn with a Novel Mutation on the <em>COL2A1</em> Gene
• Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype
• Advising caution in studying seasonal oscillations in crime rates
• Biallelic deep intronic variant c.5457+81T&gt;A in TRIP11 causes loss of function and results in achondrogenesis 1A
• Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210
• New subtype of familial achondrogenesis type IA (Houston-Harris)
• New subtype of familial achondrogenesis type IA (Houston-Harris)
• Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A
• Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period
• The golgin GMAP-210 is required for efficient membrane trafficking in the early secretory pathway
• The phenotype range of achondrogenesis 1A
• The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects