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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060014/ https://www.ncbi.nlm.nih.gov/pubmed/29695797 http://dx.doi.org/10.1038/s10038-018-0462-7 |