Associated Papers
Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII.
Huang Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Classification of Osteogenesis Imperfecta revisited.
Van Dijk FS et al.
European Journal of Medical Genetics, 0
Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings.
van Dijk FS et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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