• An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO
• Anauxetic dysplasia: A rare clinical entity
• Axial correction of the lower limb deformities in a girl with anauxetic dysplasia
• Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia
• Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders
• Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders
• Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report
• Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia
• Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report
• Further evidence of POP1 mutations as the cause of anauxetic dysplasia
• Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene
• Partial recapitulation of fetal thymic T-cell constitution postnatally in a patient with cartilage hair hypoplasia-anauxetic dysplasia spectrum disorder: A case report
• Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator
• The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum
• The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia
• Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum
• Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia
• Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding?