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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...
Autores principales: | Kamil, Gilyazetdinov, Yoon, Ju Young, Yoo, Sukdong, Cheon, Chong Kun |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
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 |
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