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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Dettagli Bibliografici
Pubblicato in:Clin Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Blackwell Publishing Ltd 2018
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Original Articles
Accesso online: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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