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Trio-whole-exome sequencing and preimplantation genetic diagnosis for unexplained recurrent fetal malformations.
Hum Mutat. 2020 Feb;41(2):432-448. doi: 10.1002/humu.23935. Epub 2019 Nov 11.
Hum Mutat. 2020.
PMID: 31680349
Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.
Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S.
Turnpenny PD, et al.
J Med Genet. 2003 May;40(5):333-9. doi: 10.1136/jmg.40.5.333.
J Med Genet. 2003.
PMID: 12746394
Free PMC article.
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