Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation

BACKGROUND: Intestinal malrotation is a potentially life‐threatening congenital anomaly due to the risk of developing midgut volvulus. The reported incidence is 0.2%–1% and both apparently hereditary and sporadic cases have been reported. Intestinal malrotation is associated with a few syndromes wit...

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發表在:Mol Genet Genomic Med
Main Authors: Salehi Karlslätt, Karin, Pettersson, Maria, Jäntti, Nina, Szafranski, Przemyslaw, Wester, Tomas, Husberg, Britt, Ullberg, Ulla, Stankiewicz, Pawel, Nordgren, Ann, Lundin, Johanna, Lindstrand, Anna, Nordenskjöld, Agneta
格式: Artigo
語言:Inglês
出版: John Wiley and Sons Inc. 2019
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Original Articles
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6418355/
https://ncbi.nlm.nih.gov/pubmed/30632303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.549
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