Clinical Characteristics, In Silico Analysis, and Intervention of Neonatal-Onset Inflammatory Bowel Disease With Combined Immunodeficiency Caused by Novel TTC7A Variants

We aimed to explore the genotypic and phenotypic characteristics of neonatal-onset inflammatory bowel disease (IBD) with combined immunodeficiency due to TTC7A mutation. We examined the clinical manifestations, imaging results, endoscopic and histological findings, interventions, and prognosis of a...

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Detalles Bibliográficos
Autores principales: Chen, Yun-e, Chen, Jingfang, Guo, Wenxing, Zhang, Yanhong, Li, Jialing, Xie, Hui, Shen, Tong, Ge, Yunsheng, Huang, Yanru, Zheng, Wenying, Lu, Mei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9243236/
https://www.ncbi.nlm.nih.gov/pubmed/35783276
http://dx.doi.org/10.3389/fgene.2022.921808

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9243236/
https://www.ncbi.nlm.nih.gov/pubmed/35783276
http://dx.doi.org/10.3389/fgene.2022.921808

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