Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review

RATIONALE: The CTNNB1 (β-catenin) gene is well known for its crucial role in cell adhesion and the Wnt-signaling pathway. Previous studies have shown that gain-of-function mutations in the CTNNB1 gene contribute to the occurrence and development of a variety of carcinomas in humans. Recently, de nov...

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Detalles Bibliográficos
Autores principales: Li, Niu, Xu, Yufei, Li, Guoqiang, Yu, Tingting, Yao, Ru-en, Wang, Xiumin, Wang, Jian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2017
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440144/
https://www.ncbi.nlm.nih.gov/pubmed/28514307
http://dx.doi.org/10.1097/MD.0000000000006914

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440144/
https://www.ncbi.nlm.nih.gov/pubmed/28514307
http://dx.doi.org/10.1097/MD.0000000000006914

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