Congenital aplasia of lacrimal and salivary glands is an autosomal dominant disorder caused by mutations of the FGF10 gene. Clinically the disorder is characterized by recurrent local infections.
| 1. |
Entesarian M et al. (2005) Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.
|
| 2. |
Milunsky JM et al. (2006) LADD syndrome is caused by FGF10 mutations.
|
| 3. |
Entesarian M et al. (2007) FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).
|
| 4. |
Klar J et al. (2011) Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease.
|
| 5. |
Smith NJ et al. (1977) Congenital absence of major salivary glands.
|
| 6. |
Vogel C et al. (1978) [Parotid and submandibular gland aplasia with atresia of the lacrimal canaliculi].
|
| 7. |
None (1991) Agenesis or hypoplasia of major salivary and lacrimal glands.
|
| 8. |
Milunsky JM et al. (1990) Agenesis or hypoplasia of major salivary and lacrimal glands.
|
| 9. |
Higashino H et al. (1987) Congenital absence of lacrimal puncta and of all major salivary glands: case report and literature review.
|
| 10. |
Wiesenfeld D et al. () Familial parotid gland aplasia.
|
| 11. |
Sucupira MS et al. (1983) Salivary gland imaging and radionuclide dacryocystography in agenesis of salivary glands.
|
| 12. |
Caccamise WC et al. (1980) Congenital absence of the lacrimal puncta associated with alacrima and aptyalism.
|
| 13. |
Ferreira AP et al. (2000) Congenital absence of lacrimal puncta and salivary glands: report of a Brazilian family and review.
|
| 14. |
Orphanet article Orphanet ID 86815
|
| 15. |
OMIM.ORG article Omim 180920
|