Utility of next-generation sequencing in genetic testing and counseling of disorders involving the musculoskeletal system—trends observed from a single genetic unit

BACKGROUND: Disorders involving the musculoskeletal system are often identified with short stature and a range of orthopedic problems. The clinical and genetic heterogeneity of these diseases along with several characteristic overlaps makes definitive diagnosis difficult for clinicians. Hence, using...

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Detalles Bibliográficos
Autores principales: Iyer, Gayatri R., Kumar, Roshan, Poornima, Subhadra, Kamireddy, Aruna Priya, Juturu, Keerthi Konda, Bhatnagar, Lekhangda, Arora, Srinka, Suresh, Vaishnavi, Utage, Prashant R., Bailur, Sarah, Pujar, Akhilesh N., Hasan, Qurratulain
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8818190/
https://www.ncbi.nlm.nih.gov/pubmed/35123515
http://dx.doi.org/10.1186/s13018-022-02969-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8818190/
https://www.ncbi.nlm.nih.gov/pubmed/35123515
http://dx.doi.org/10.1186/s13018-022-02969-x

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