Infantile presentation of osteoporosis-pseudoglioma syndrome: A Case Report
Osteoporosis-pseudoglioma syndrome (OPPG) is a rare disorder characterized by severe osteoporosis and vision impairment, due to mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. This autosomal recessive disorder is characterized by fractures, bone fragility, and pseudo...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Golestan University of Medical Sciences
2024-07-01
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| Series: | Medical Laboratory Journal |
| Subjects: | |
| Online Access: | http://mlj.goums.ac.ir/article-1-1733-en.pdf |
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