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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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Clin Genet
Main Authors: 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.
פורמט: Artigo
שפה:Inglês
יצא לאור: Blackwell Publishing Ltd 2018
נושאים:
גישה מקוונת: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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