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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...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| 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 |