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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Mol Genet Genomic Med |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
John Wiley and Sons Inc.
2019
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| Θέματα: | |
| Διαθέσιμο Online: | 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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