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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Bibliographic Details
Main Authors: Qudsiya Ansari, Anisha Jain, Kailas Randad, Vinaya Singh, Akash Sarkate
Format: Article
Language:English
Published: Golestan University of Medical Sciences 2024-07-01
Series:Medical Laboratory Journal
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Online Access:http://mlj.goums.ac.ir/article-1-1733-en.pdf
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