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Browse result for Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia

※ introduction

    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.

Reference
Wiki: Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD10203Q8NHU316692
SGMS2
Phosphatidylcholine:ceramide cholinephosphotransferase 2
Homo sapiens