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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Detalles Bibliográficos
Autores principales: Merkuryeva, Elena, Markova, Tatiana, Tyurin, Anton, Valeeva, Diana, Kenis, Vladimir, Sumina, Maria, Sorokin, Igor, Shchagina, Olga, Skoblov, Mikhail, Nefedova, Maria, Khusainova, Rita, Zakharova, Ekaterina, Dadali, Elena, Kutsev, Sergey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178575/
https://www.ncbi.nlm.nih.gov/pubmed/37175737
http://dx.doi.org/10.3390/ijms24098021

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