• Anesthetic management in a child with Rolland-Desbuquois type dyssegmental dysplasia
• Deficiency in perlecan/HSPG2 during bone development enhances osteogenesis and decreases quality of adult bone in mice
• Dyssegemental dyspalsia; Rolland-Desbuquois type--a case report from Pakistan
• Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients
• Dyssegmental dysplasia with bone entrapment and visceral ramifications
• Dyssegmental dysplasia, Silverman-Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy
• Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis
• Hydrops in first trimester as unreported prenatal finding of dyssegmental dysplasia confirmed by exome sequencing
• Impact of the heparan sulfate proteoglycan perlecan on human disease and health
• Knockdown of hspg2 is associated with abnormal mandibular joint formation and neural crest cell dysfunction in zebrafish
• Modular Proteoglycan Perlecan/<em>HSPG2</em>: Mutations, Phenotypes, and Functions
• Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2
• Perlecan: a review of its role in neurologic and musculoskeletal disease
• Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type
• Prenatal sonographic features of dyssegmental dysplasia Rolland-Desbuquois type
• Syndromes, disorders and maternal risk factors associated with neural tube defects (V)