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A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome
Biallelic pathogenic variants in PIBF1 have been identified as one of the genetic etiologies of Joubert syndrome. We report a two-years-old girl with global developmental delay, facial dysmorphism, hypotonia, enlarged cystic kidneys, molar tooth sign and thinning of corpus callosum. A novel homozygo...
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| Vydáno v: | J Hum Genet |
|---|---|
| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6060014/ https://ncbi.nlm.nih.gov/pubmed/29695797 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-018-0462-7 |
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