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Journals / Turkish Journal of Pediatrics / 2019 / Cilt: 61 - Sayı: 1

Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis

Jumana ALBARAMKİ
Haitham DMOUR
Mohammad SHBOUL
Carine BONNARD
Byrappa VENKATESH
Rasha ODEH
Pages
130–133
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

We describe herean 11-year-old child who was diagnosed with these two conditions and wasfound to carry a splice site mutation c.1524+1G>A in the GALNT3 gene.

📌 3 Key Takeaways

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Objective & Hypothesis:Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessivedisorder that is characterized by persistent hyperphosphatemia andextra-articular calcifications.
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Key Findings & Data:Three cases were previously reported withhyperphosphatemic familial tumoral calcinosis that were associated withchronic recurrent multifocal osteomyelitis, an autoinflammatory disorderthat is characterized by recurrent episodes of bone pain.
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Conclusion & Impact:We describe herean 11-year-old child who was diagnosed with these two conditions and wasfound to carry a splice site mutation c.1524+1G>A in the GALNT3 gene.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Özet

Hyperphosphatemic familial tumoral calcinosis is a rare autosomal recessivedisorder that is characterized by persistent hyperphosphatemia andextra-articular calcifications. Three cases were previously reported withhyperphosphatemic familial tumoral calcinosis that were associated withchronic recurrent multifocal osteomyelitis, an autoinflammatory disorderthat is characterized by recurrent episodes of bone pain. We describe herean 11-year-old child who was diagnosed with these two conditions and wasfound to carry a splice site mutation c.1524+1G>A in the GALNT3 gene.

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Cite This Article

ALBARAMKİ, J., DMOUR, H., SHBOUL, M., BONNARD, C., VENKATESH, B., ODEH, R. (2019). Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis. Turkish Journal of Pediatrics, Cilt: 61 - Sayı: 1, 130–133. https://ajindex.com/articles/411884

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References (13)

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