Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome

Detalles Bibliográficos
Autores principales: Feng, Mengjie, Yu, Xiu, Yue, Yongjian, Zhong, Jiacheng, Wang, Lingwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chongqing Medical University 2022
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10308159/
https://www.ncbi.nlm.nih.gov/pubmed/37396529
http://dx.doi.org/10.1016/j.gendis.2022.10.013

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