Editorial: Next generation sequencing (NGS) for rare diseases diagnosis - Volume II
- PMID: 37492233
- PMCID: PMC10365027
- DOI: 10.3389/fgene.2023.1249585
Editorial: Next generation sequencing (NGS) for rare diseases diagnosis - Volume II
Keywords: copy number variants (CNV) sequencing; next generation sequencing; rare diseases diagnosis; whole-exome sequencing; whole-genome sequencing.
Conflict of interest statement
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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- Editorial on the Research Topic Next generation sequencing (NGS) for rare diseases diagnosis ‐ Volume II
References
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- Malfait F., Syx D., Vlummens P., Symoens S., Nampoothiri S., Hermanns-Le T., et al. (2010). Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. Hum. Mutat. 31, 1233–1239. 10.1002/humu.21355 - DOI - PubMed
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