A Novel RUNX1 Genetic Variant Identified in a Young Male with Severe Osteoporosis

This case describes a young man with an unusual cause of severe osteoporosis and markedly deranged bone microarchitecture resulting in multiple fractures. A potentially pathogenic germline variant in the runt‐related transcription factor 1 (RUNX1) gene was discovered by a focused 51‐gene myeloid mal...

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Detalles Bibliográficos
Autores principales: Block, Tomasz J., Shore‐Lorenti, Cat, Zebaze, Roger, Kerr, Peter G., Kalff, Anna, Perkins, Andrew Charles, Ebeling, Peter R., Milat, Frances
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Case Studies
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10494497/
https://www.ncbi.nlm.nih.gov/pubmed/37701147
http://dx.doi.org/10.1002/jbm4.10791

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