The VANGL1 P384R variant cause both neural tube defect and Klippel‐Feil syndrome

BACKGROUND: Neural tube defect (NTD) is a common birth defect causing much death in the world. Variants in VANGL1 lead to NTD and caudal regression syndrome. NTD displays a complex phenotype encompassing both genetic and environmental factors. METHODS: The fetus was diagnosed by prenatal ultrasound...

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Detalles Bibliográficos
Autores principales: Cheng, Chen, Zhao, Sheng, Zhu, Xia, Yang, Fan, Wang, Weiyun, Feng, Qian, Liu, Ya, Huang, Hui, Chen, Xinlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8372072/
https://www.ncbi.nlm.nih.gov/pubmed/34014041
http://dx.doi.org/10.1002/mgg3.1710

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