A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly

Neural tube defects (NTDs) affecting the brain (anencephaly) are lethal before or at birth, whereas lower spinal defects (spina bifida) may lead to lifelong neurological handicap. Collectively, NTDs rank among the most common birth defects worldwide. This study focuses on anencephaly, which despite...

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Detalles Bibliográficos
Autores principales: Ishida, M., Cullup, T., Boustred, C., James, C., Docker, J., English, C., Lench, N., Copp, A.J., Moore, G.E., Greene, N.D.E., Stanier, P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5887939/
https://www.ncbi.nlm.nih.gov/pubmed/29205322
http://dx.doi.org/10.1111/cge.13189

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