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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Detalles Bibliográficos
Autores principales: Hebbar, Malavika, Kanthi, Anil, Shukla, Anju, Bielas, Stephanie, Girisha, Katta M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
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

Internet

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

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