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Broad‐spectrum next‐generation sequencing‐based diagnosis of a case of Nager syndrome
BACKGROUND: Nager syndrome is a rare genetic syndrome characterized by craniofacial and preaxial limb anomalies. Haploinsufficiency of the SF3B4 gene has been identified as a significant reason for Nager syndrome. Treacher Collins syndrome (TCS) has similar facial features; however, the TCOF1, POLR1...
Uloženo v:
| Vydáno v: | J Clin Lab Anal |
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| Hlavní autoři: | , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2020
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7521291/ https://ncbi.nlm.nih.gov/pubmed/32537850 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.23426 |
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