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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Detalhes bibliográficos
Publicado no:Clin Genet
Principais autores: 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: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2018
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5887939/
https://ncbi.nlm.nih.gov/pubmed/29205322
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13189
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