Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass

Mosaicism, a state in which an individual has two or more genetically distinct populations of cells in the body, can be difficult to detect because of either mild or atypical clinical presentation and limitations in the commonly used detection methods. Knowledge of the role of mosaicism is limited i...

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Detalles Bibliográficos
Autores principales: Muurinen, Mari, Taylan, Fulya, Tournis, Symeon, Eisfeldt, Jesper, Balanika, Alexia, Vastardis, Heleni, Ala‐Mello, Sirpa, Mäkitie, Outi, Costantini, Alice
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9382864/
https://www.ncbi.nlm.nih.gov/pubmed/35991531
http://dx.doi.org/10.1002/jbm4.10660

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9382864/
https://www.ncbi.nlm.nih.gov/pubmed/35991531
http://dx.doi.org/10.1002/jbm4.10660

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