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Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders

BACKGROUND: Congenital cranial dysinnervation disorders (CCDDs) are a group of diseases with high clinical and genetic heterogeneity. Clinical examinations combined with Magnetic resonance imaging (MRI) and whole exome sequencing (WES) were performed to reveal the phenotypic and genotypic characteri...

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Detalles Bibliográficos
Autores principales:	Jia, Hongyan, Ma, Qian, Liang, Yi, Wang, Dan, Chang, Qinglin, Zhao, Bo, Zhang, Zongrui, Liang, Jing, Song, Jing, Wang, Yidi, Zhang, Ranran, Tu, Zhanhan, Jiao, Yonghong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9733177/ https://www.ncbi.nlm.nih.gov/pubmed/36494820 http://dx.doi.org/10.1186/s13023-022-02582-5

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