Case Report: Second Report of Joubert Syndrome Caused by Biallelic Variants in IFT74

Joubert syndrome (JBTS) is a rare ciliopathy characterized by developmental delay, hypotonia, and distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). We reported a 15-month-old female with dysmorphic features (flat nasal bridge, almond-shaped eye, and a minor midlin...

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Detalles Bibliográficos
Autores principales: Zhongling, Ke, Guoming, Li, Yanhui, Chen, Xiaoru, Chen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440907/
https://www.ncbi.nlm.nih.gov/pubmed/34539760
http://dx.doi.org/10.3389/fgene.2021.738157

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440907/
https://www.ncbi.nlm.nih.gov/pubmed/34539760
http://dx.doi.org/10.3389/fgene.2021.738157

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