Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1

Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliary diseases. To date, 34 subtypes of JBTS have been classified due to different causative genes or extra clinical features. Most of them are autosomal recessive, while only the subtype 10 (JBTS10) is a quite rare X-l...

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Detalles Bibliográficos
Autores principales: Linpeng, Siyuan, Liu, Jing, Pan, Jianyan, Cao, Yingxi, Teng, Yanling, Liang, Desheng, Li, Zhuo, Wu, Lingqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276521/
https://www.ncbi.nlm.nih.gov/pubmed/30581852
http://dx.doi.org/10.1155/2018/4032543

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276521/
https://www.ncbi.nlm.nih.gov/pubmed/30581852
http://dx.doi.org/10.1155/2018/4032543

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