TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis

OBJECTIVES: The main objective of this case report is to identify a gene associated with a Japanese family with autosomal dominant arthrogryposis. METHODS: We performed clinicopathologic diagnosis and genomic analysis using trio-based exome sequencing. RESULTS: A 14-year-old boy had contractures in...

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Detalles Bibliográficos
Autores principales: Nishimori, Yukako, Iida, Aritoshi, Ogasawara, Masashi, Okubo, Mariko, Yonenobu, Yuki, Kinoshita, Makoto, Sugie, Kazuma, Noguchi, Satoru, Nishino, Ichizo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8682965/
https://www.ncbi.nlm.nih.gov/pubmed/34934811
http://dx.doi.org/10.1212/NXG.0000000000000649

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8682965/
https://www.ncbi.nlm.nih.gov/pubmed/34934811
http://dx.doi.org/10.1212/NXG.0000000000000649

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