Osteogenesis imperfecta type XVII: expansion of the phenotype
Abstract Background Biallelic variants in SPARC are extremely rare, and have been reported in only a few cases of autosomal recessive osteogenesis imperfecta (OI) type XVII. Here, we describe an individual with a SPARC homozygous missense variant (c.787G > A; p.Glu263Lys) and expand on the phenot...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2024-01-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43042-024-00475-9 |