A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome

BACKGROUND: KIAA0586, also known as Talpid3, plays critical roles in primary cilia formation and hedgehog signaling in humans. Variants in KIAA0586 could cause some different ciliopathies, including Joubert syndrome (JBTS), which is a clinically and genetically heterogeneous group of autosomal reces...

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Detalles Bibliográficos
Autores principales: Shen, Yue, Lu, Chao, Cheng, Tingting, Cao, Zongfu, Chen, Cuixia, Ma, Xu, Gao, Huafang, Luo, Minna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9838056/
https://www.ncbi.nlm.nih.gov/pubmed/36635699
http://dx.doi.org/10.1186/s12920-023-01438-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9838056/
https://www.ncbi.nlm.nih.gov/pubmed/36635699
http://dx.doi.org/10.1186/s12920-023-01438-6

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