Article
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.
Clinical genetics - 1 Apr 2018
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
Abstract excerpt
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 having a similar frequency to spina bifida and being the most common type of NTD observed in mouse models, has had...
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