Page 41 - Read Online
P. 41
Page 272 Lyulcheva-Bennett et al. J Transl Genet Genom 2023;7:259-73 https://dx.doi.org/10.20517/jtgg.2023.33
10. Mathur S, Sutton J. Personalized medicine could transform healthcare. Biomed Rep 2017;7:3-5. DOI PubMed PMC
11. Vicente AM, Ballensiefen W, Jönsson JI. How personalised medicine will transform healthcare by 2030: the ICPerMed vision. J
Transl Med 2020;18:180. DOI PubMed PMC
12. MacKinnon S, Oystreck DT, Andrews C, Chan WM, Hunter DG, Engle EC. Diagnostic distinctions and genetic analysis of patients
diagnosed with moebius syndrome. Ophthalmology 2014;121:1461-8. DOI PubMed PMC
13. Terzis JK, Noah EM. Möbius and Möbius-like patients: etiology, diagnosis, and treatment options. Clin Plast Surg 2002;29:497-514.
DOI PubMed
14. Pedersen LK, Maimburg RD, Hertz JM, et al. Moebius sequence - a multidisciplinary clinical approach. Orphanet J Rare Dis
2017;12:4. DOI PubMed PMC
15. Sadeghi N, Hutchinson E, Van Ryzin C, et al; Moebius Syndrome Research Consortium. Brain phenotyping in Moebius syndrome and
other congenital facial weakness disorders by diffusion MRI morphometry. Brain Commun 2020;2:fcaa014. DOI
16. Verzijl HT, van der Zwaag B, Cruysberg JR, Padberg GW. Möbius syndrome redefined: a syndrome of rhombencephalic
maldevelopment. Neurology 2003;61:327-33. DOI PubMed
17. Raroque HG Jr, Hershewe GL, Snyder RD. Möbius syndrome and transposition of the great vessels. Neurology 1988;38:1894-5. DOI
PubMed
18. Herrera DA, Ruge NO, Florez MM, Vargas SA, Ochoa-Escudero M, Castillo M. Neuroimaging findings in moebius sequence. AJNR
Am J Neuroradiol 2019;40:862-5. DOI PubMed PMC
19. Meyer AE. Unmasking Moebius syndrome. Nursing 2015;45:50-3. DOI PubMed
20. Whitman MC, Jurgens JA, Hunter DG, Engle EC. Congenital fibrosis of the extraocular muscles overview. In: Adam MP, Feldman J,
Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, et al., editors. GeneReviews®. Seattle: Seattle (WA); 1993.
21. Webb BD, Frempong T, Naidich TP, Gaspar H, Jabs EW, Rucker JC. Mirror movements identified in patients with moebius syndrome.
Tremor Other Hyperkinet Mov 2014;4:256. DOI PubMed PMC
22. Jissendi-Tchofo P, Severino M, Nguema-Edzang B, Toure C, Soto Ares G, Barkovich AJ. Update on neuroimaging phenotypes of
mid-hindbrain malformations. Neuroradiology 2015;57:113-38. DOI PubMed
23. Marques-Dias MJ, Gonzalez CH, Rosemberg S. Möbius sequence in children exposed in utero to misoprostol: neuropathological study
of three cases. Birth Defects Res A Clin Mol Teratol 2003;67:1002-7. DOI PubMed
24. Sarnat HB. Watershed infarcts in the fetal and neonatal brainstem. An aetiology of central hypoventilation, dysphagia, Möibius
syndrome and micrognathia. Eur J Paediatr Neurol 2004;8:71-87. DOI PubMed
25. Puvabanditsin S, Garrow E, Augustin G, Titapiwatanakul R, Kuniyoshi KM. Poland-Möbius syndrome and cocaine abuse: a relook at
vascular etiology. Pediatr Neurol 2005;32:285-7. DOI PubMed
26. Auffret M, Bernard-Phalippon N, Dekemp J, et al. Misoprostol exposure during the first trimester of pregnancy: is the malformation
risk varying depending on the indication? Eur J Obstet Gynecol Reprod Biol 2016;207:188-92. DOI
27. Vauzelle C, Beghin D, Cournot MP, Elefant E. Birth defects after exposure to misoprostol in the first trimester of pregnancy:
prospective follow-up study. Reprod Toxicol 2013;36:98-103. DOI PubMed
28. Terzis JK, Anesti K. Developmental facial paralysis: a review. J Plast Reconstr Aesthet Surg 2011;64:1318-33. DOI PubMed
29. Tomas-Roca L, Tsaalbi-Shtylik A, Jansen JG, et al. De novo mutations in PLXND1 and REV3L cause Möbius syndrome. Nat
Commun 2015;6:7199. DOI PubMed PMC
30. Lin W, Wu X, Wang Z. A full-length cDNA of hREV3 is predicted to encode DNA polymerase zeta for damage-induced mutagenesis
in humans. Mutat Res 1999;433:89-98. DOI
31. Van Sloun PP, Varlet I, Sonneveld E, et al. Involvement of mouse Rev3 in tolerance of endogenous and exogenous DNA damage. Mol
Cell Biol 2002;22:2159-69. DOI PubMed PMC
32. Singh B, Li X, Owens KM, Vanniarajan A, Liang P, Singh KK. Human REV3 DNA polymerase zeta localizes to mitochondria and
protects the mitochondrial genome. PLoS One 2015;10:e0140409. DOI PubMed PMC
33. Vaccari CM, Tassano E, Torre M, et al. Assessment of copy number variations in 120 patients with Poland syndrome. BMC Med
Genet 2016;17:89. DOI PubMed PMC
34. Halas A, Fijak-Moskal J, Kuberska R, et al. Developmental delay with hypotrophy associated with homozygous functionally relevant
REV3L variant. J Mol Med 2021;99:415-23. DOI
35. Smedley D, Smith KR, Martin A, et al; 100,000 Genomes Project Pilot Investigators. 100,000 genomes pilot on rare-disease diagnosis
in health care - preliminary report. N Engl J Med 2021;385:1868-80. DOI PubMed PMC
36. van der Zwaag B, Hellemons AJ, Leenders WP, et al. PLEXIN-D1, a novel plexin family member, is expressed in vascular
endothelium and the central nervous system during mouse embryogenesis. Dev Dyn 2002;225:336-43. DOI
37. Glass GE, Mohammedali S, Sivakumar B, et al. Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1
gene and literature review. BMC Pediatr 2022;22:745. DOI PubMed PMC
38. Tenney AP, Di Gioia SA, Webb BD, et al. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause
dominant hereditary congenital facial paresis. Nat Genet 2023;55:1149-63. DOI PubMed PMC
39. Guimier A, de Pontual L, Braddock SR, et al. Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac
malformations in humans. Hum Mol Genet 2023;32:353-6. DOI
40. Seaby EG, Rehm HL, O’Donnell-Luria A. Strategies to uplift novel mendelian gene discovery for improved clinical outcomes. Front
Genet 2021;12:674295. DOI PubMed PMC

