| First Author | Entesarian M | Year | 2005 |
| Journal | Nat Genet | Volume | 37 |
| Issue | 2 | Pages | 125-7 |
| PubMed ID | 15654336 | Mgi Jnum | J:96342 |
| Mgi Id | MGI:3530190 | Doi | 10.1038/ng1507 |
| Citation | Entesarian M, et al. (2005) Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. Nat Genet 37(2):125-7 |
| abstractText | Autosomal dominant aplasia of lacrimal and salivary glands (ALSG; OMIM 180920 and OMIM 103420) is a rare condition characterized by irritable eyes and dryness of the mouth. We mapped ALSG to 5p13.2-5q13.1, which coincides with the gene fibroblast growth factor 10 (FGF10). In two extended pedigrees, we identified heterozygous mutations in FGF10 in all individuals with ALSG. Fgf10(+/-) mice have a phenotype similar to ALSG, providing a model for this disorder. We suggest that haploinsufficiency for FGF10 during a crucial stage of development results in ALSG. |
