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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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Materias: | |
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 |