Novel Homozygous Nonsense Mutation in the LRP5 Gene in Two Siblings with Osteoporosis-pseudoglioma Syndrome
Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder characterized by severe osteoporosis and eye abnormalities that lead to vision loss. In this study, clinical findings and genetic study of two siblings with OPPG are presented. Whole exome sequencing of DNA enriched for...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayincilik
2023-09-01
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| Series: | JCRPE |
| Subjects: | |
| Online Access: | https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-83703&look4= |