Prenatal diagnosis of Walker–Warburg syndrome due to compound mutations in the B3GALNT2 gene

BACKGROUND: Congenital hydrocephalus is one of the symptoms of Walker–Warburg syndrome that is attributed to the disruptions of the genes, among which the B3GALNT2 gene is rarely reported. A diagnosis of the Walker–Warburg syndrome depends on the clinical manifestations and the whole‐exome sequencin...

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Detalles Bibliográficos
Autores principales: Wang, Peng, Jin, Pengzhen, Zhu, Linyan, Chen, Min, Qian, Yeqing, Zeng, Wenshan, Wang, Miaomiao, Xu, Yuqing, Xu, Yanfei, Dong, Minyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9286840/
https://www.ncbi.nlm.nih.gov/pubmed/35338537
http://dx.doi.org/10.1002/jgm.3417

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9286840/
https://www.ncbi.nlm.nih.gov/pubmed/35338537
http://dx.doi.org/10.1002/jgm.3417

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