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X-linked situs abnormalities result from mutations in ZIC3.
Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth A, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B. Gebbia M, et al. Among authors: penman splitt m. Nat Genet. 1997 Nov;17(3):305-8. doi: 10.1038/ng1197-305. Nat Genet. 1997. PMID: 9354794
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
Evans DG, Bowers N, Burkitt-Wright E, Miles E, Garg S, Scott-Kitching V, Penman-Splitt M, Dobbie A, Howard E, Ealing J, Vassalo G, Wallace AJ, Newman W; Northern UK NF1 Research Network; Huson SM. Evans DG, et al. Among authors: penman splitt m. EBioMedicine. 2016 May;7:212-20. doi: 10.1016/j.ebiom.2016.04.005. Epub 2016 Apr 13. EBioMedicine. 2016. PMID: 27322474 Free PMC article.