| 概要 |
Calvarial doughnut lesions with bone fragility (CDL) is a rare autosomal dominant skeletal disorder characterized by low-bone mineral density, increased spinal and peripheral fractures, and sclerotic, doughnut-shaped lesions in the cranial bones. Novel heterozygous pathogenic variants in the sphingomyelin synthase 2 gene (SGMS2) have been identified.
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| 著者 |
Jaakkola E, Laine CM, Mayranpaa MK, Falck A, Ignatius J, Makitie O |
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| 著者 |
Pekkinen M, Terhal PA, Botto LD, Henning P, Makitie RE, Roschger P, Jain A, Kol M, Kjellberg MA, Paschalis EP, van Gassen K, Murray M, Bayrak-Toydemir P, Magnusson MK, Jans J, Kausar M, Carey JC, Somerharju P, Lerner UH, Olkkonen VM, Klaushofer K, Holthuis JC, Makitie O |
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