Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants
Abstract Osteogenesis imperfecta is characterized by frequent fractures, bone deformities, and other systemic symptoms. Severe osteogenesis imperfecta may progress to hydrocephalus; however, treatment strategies for this complication remain unclear. Here, we describe severe osteogenesis imperfecta i...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2024-03-01
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Series: | Human Genome Variation |
Online Access: | https://doi.org/10.1038/s41439-024-00274-z |