• Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia
• Diastrophic dysplasia sulfate transporter (DTDST) gene is not involved in pseudodiastrophic dysplasia
• Pseudo-diastrophic dysplasia
• Pseudodiastrophic dysplasia evolution with age and management. Report of two new cases and review of the literature
• Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis
• Pseudodiastrophic dysplasia type Burgio in a newborn
• Pseudodiastrophic dysplasia: a distinct newborn skeletal dysplasia
• Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype
• Resting cartilage and the growth plate in dystrophic dysplasia: case report and clinicopathologic characteristics as compared to pseudodystrophic dysplasia and type II atelosteogenesis
• Thanatophoric nanism and histopathologic bone changes