Article ; Online: Severe Osteoporosis With Pathogenic
JCEM case reports
2024 Volume 2, Issue 3, Page(s) luae021
Abstract: A 24-year-old female patient was diagnosed with osteoporosis after presenting with numerous fractures throughout her childhood and adolescence. Risk factors included chronic constipation, severe vitamin D deficiency, and long-term high-dose steroid use ... ...
Abstract | A 24-year-old female patient was diagnosed with osteoporosis after presenting with numerous fractures throughout her childhood and adolescence. Risk factors included chronic constipation, severe vitamin D deficiency, and long-term high-dose steroid use for severe eczema. Metabolic bone disorder clinical exome screening (limited panel of metabolic bone disorders and gastrointestinal disorders) was undertaken and revealed a class 4 likely pathogenic variant in the |
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Language | English |
Publishing date | 2024-02-23 |
Publishing country | England |
Document type | Case Reports |
ISSN | 2755-1520 |
ISSN (online) | 2755-1520 |
DOI | 10.1210/jcemcr/luae021 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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