174
Views
5
CrossRef citations to date
0
Altmetric
Case Reports

New pathogenic variant in the FGF10 gene in the agenesis of lacrimal and salivary gland syndrome: Ophthalmological and genetic study

, , , , , , & show all
Pages 125-128 | Received 03 Mar 2017, Accepted 03 Sep 2017, Published online: 20 Oct 2017

References

  • Gok F, Mutlu FM, Sari E, Demirkaya E, Altinsoy HI, Bernd W. Congenital absence of salivary and lacrimal glands accompanied by growth and development retardation. J Pediatr Ophthalmol Strabismus. 2009;10:1–3.
  • Kim SH, Hwang S, Kweon S, Kim TK, Oh J. Two cases of lacrimal gland agenesis in the same family-clinicoradiologic findings and management. Can J Ophthalmol. 2005;40:502–05.
  • Berta E, Bettega G, Jouk PS, Billy G, Nugues F, Morand B. Complete agenesis of major salivary glands. Int J Pediatr Otorhinolaryngol. 2013;77:1782–85. doi:10.1016/j.ijporl.2013.07.025.
  • Entesarian M, Dahlqvist J, Shashi V, Stanley CS, Falahat B, Reardon W, Dahl N. FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALGS). Eur J Hum Genet. 2007;15:379–82. doi:10.1038/sj.ejhg.5201762.
  • Allen RC. Hereditary disorders affecting the lacrimal system. Curr Opin Ophthalmol. 2014;25(5):424–31. doi:10.1097/ICU.0000000000000092
  • Pan Y, Carbe C, Powers A, Zhang EE, Esko JD, Grobe K, Feng GS, Zhang X. Bud specific N-sulfutation of heparan sulfate regulates Shp2-dependent FGF signaling during lacrimal gland induction. Development. 2008;135:301–10. doi:10.1242/dev.014829.
  • Chen Z, Huang J, Liu Y, Dattilo LK, Huh SH, Ornitz D, Beebe DC. FGF signaling activates a Sox9-Sox10 pathway fot the formation and brabching morphogenesis of mouse ocular glands. Development. 2014;141:2691–701. doi:10.1242/dev.108944.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.