Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant

BACKGROUND AND OBJECTIVES: We describe 2 long-surviving siblings with a mild phenotype of Joubert syndrome (JBTS) harboring a novel compound heterozygous missense variant in the CPLANE1 gene. METHODS: Targeted sequencing data of 2 middle-aged siblings (sister and brother) with JBTS were analyzed. RE...

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Detalles Bibliográficos
Autores principales: Matoba, Kento, Chihara, Norio, Satake, Wataru, Tokuoka, Hideki, Otsuka, Yoshihisa, Ueda, Takehiro, Sekiguchi, Kenji, Itoh, Masayuki, Matsumoto, Riki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9513979/
https://www.ncbi.nlm.nih.gov/pubmed/36176335
http://dx.doi.org/10.1212/NXG.0000000000200031

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9513979/
https://www.ncbi.nlm.nih.gov/pubmed/36176335
http://dx.doi.org/10.1212/NXG.0000000000200031

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