Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature

BACKGROUND: Large-scale genomic analyses have provided insight into the genetic complexity of short stature (SS); however, only a portion of genetic causes have been identified. In this study, we identified disease-causing mutations in a cohort of Korean patients with suspected syndromic SS by targe...

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Detalles Bibliográficos
Autores principales: Kamil, Gilyazetdinov, Yoon, Ju Young, Yoo, Sukdong, Cheon, Chong Kun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8254301/
https://www.ncbi.nlm.nih.gov/pubmed/34217350
http://dx.doi.org/10.1186/s13023-021-01937-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8254301/
https://www.ncbi.nlm.nih.gov/pubmed/34217350
http://dx.doi.org/10.1186/s13023-021-01937-8

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