Diagnosis and treatment of MN1 C‐terminal truncation syndrome

BACKGROUND: MN1 C‐terminal truncation (MCTT) is a rare syndrome; only 27 cases have been reported. We report the first case of an 8‐year‐old girl with MCTT syndrome complicated with moderate obstructive sleep apnea (OSA). METHODS: MCTT syndrome was diagnosed by whole‐exome sequencing (WES) and valid...

Descripción completa

Detalles Bibliográficos
Autores principales: Yu, Jingjia, Li, Chen, Chen, Jialin, Ran, Qiuchi, Zhao, Yingya, Cao, Qingxin, Chen, Ximeng, Yu, Linnan, Li, Wenyang, Zhao, Zhenjin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9651612/
https://www.ncbi.nlm.nih.gov/pubmed/36124717
http://dx.doi.org/10.1002/mgg3.1965

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9651612/
https://www.ncbi.nlm.nih.gov/pubmed/36124717
http://dx.doi.org/10.1002/mgg3.1965

Ejemplares similares