Associated Papers
Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants.
Nakamura S et al.
Human Genome Variation, 2024
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Van Dijk FS et al.
European Journal of Human Genetics : Ejhg, 2009
Classification of Osteogenesis Imperfecta revisited.
Van Dijk FS et al.
European Journal of Medical Genetics, 0
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