Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant

Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant

Calvarial doughnut lesions (CDL) with bone fragility with or without spondylometaphyseal dysplasia (MIM: #126550) is a rare autosomal dominant skeletal disorder characterized by low bone mineral density, spinal and peripheral fractures, and specific sclerotic lesions of the cranial bones. In the cur...

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Main Authors: Dadali, E. (Author), Kenis, V. (Author), Khusainova, R. (Author), Kutsev, S. (Author), Markova, T. (Author), Merkuryeva, E. (Author), Nefedova, M. (Author), Shchagina, O. (Author), Skoblov, M. (Author), Sorokin, I. (Author), Sumina, M. (Author), Tyurin, A. (Author), Valeeva, D. (Author), Zakharova, E. (Author)
Format: Article
Language:English
Published: MDPI 2023
Subjects:
bone fractures
low bone mineral density
SGMS2 gene
Online Access:View Fulltext in Publisher
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