Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome

Warburg Micro syndrome (WARBM) is an autosomal recessive neuro-ophthalmologic syndrome characterized by microcephaly, microphthalmia, congenital cataracts, cortical dysplasia, corpus callosum hypoplasia, spasticity, and hypogonadism. WARBM is divided into four subtypes according to the causative gen...

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Detalles Bibliográficos
Autores principales: Wang, Qiwei, Qin, Tingfeng, Wang, Xun, Li, Jing, Lin, Xiaoshan, Wang, Dongni, Lin, Zhuoling, Zhang, Xulin, Li, Xiaoyan, Lin, Haotian, Chen, Weirong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777746/
https://www.ncbi.nlm.nih.gov/pubmed/36553631
http://dx.doi.org/10.3390/genes13122364

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777746/
https://www.ncbi.nlm.nih.gov/pubmed/36553631
http://dx.doi.org/10.3390/genes13122364

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