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Calvarial doughnut lesions-bone fragility syndrome, also known as Familial calvarial doughnut lesions, is a rare autosomal dominant genetic disorder characterized by mild to moderate fragility of the bones accompanied with calvarial doughnut lesions.

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  • Calvarial doughnut lesions-bone fragility syndrome, also known as Familial calvarial doughnut lesions, is a rare autosomal dominant genetic disorder characterized by mild to moderate fragility of the bones accompanied with calvarial doughnut lesions. (en)
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  • X-ray of the skull of three familial CDL patients showing the multiple cranial lesions characteristic of this condition. All of these patients carried a c.148C>T mutation in the SGMS2 gene. (en)
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  • Calvarial doughnut lesions-bone fragility syndrome (en)
dbp:prevention
  • none (en)
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  • Calvarial doughnut lesions-bone fragility syndrome, also known as Familial calvarial doughnut lesions, is a rare autosomal dominant genetic disorder characterized by mild to moderate fragility of the bones accompanied with calvarial doughnut lesions. (en)
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  • Calvarial doughnut lesions-bone fragility syndrome (en)
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