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aplasia of lacrimal and salivary glands

Wednesday 28 March 2007

Autosomal dominant disease. Lacrimoauriculodentodigital syndrome (LADD) (MIM.149730) is an allelic disorder with a more severe phenotype.

Etiology

- autosomal dominant aplasia of lacrimal and salivary glands (ALSG) is caused by mutation in the gene encoding fibroblast growth factor-10 (FGF10) (MIM.602115).

References

- Entesarian, M.; Matsson, H.; Klar, J.; Bergendal, B.; Olson, L.; Arakaki, R.; Hayashi, Y.; Ohuchi, H.; Falahat, B.; Bolstad, A. I.; Jonsson, R.; Wahren-Herlenius, M.; Dahl, N. : Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. Nature Genet. 37: 125-128, 2005. PubMed ID : 15654336