An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/1471-2350-9-114.pdf
Reference8 articles.
1. Levy WJ: Mesoectodermal dysplasia. A new combination of anomalies. Am J Ophthalmol. 1967, 63: 978-982.
2. Rohmann E, Brunner HG, Kayserili H, et al: Mutations in different components of FGF signaling in LADD syndrome. Nat Genet. 2006, 38: 414-417. 10.1038/ng1757.
3. Shams I, Rohmann E, Eswarakumar VP, et al: Lacrimo-auriculo-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathway. Mol Cell Biol. 2007, 27: 6903-6912. 10.1128/MCB.00544-07.
4. Entesarian M, Dahlqvist J, Shashi V, et al: FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG). Eur J Hum Genet. 2007, 15: 379-382. 10.1038/sj.ejhg.5201762.
5. Entesarian M, Matsson H, Klar J, et al: Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. Nat Genet. 2005, 37: 125-128. 10.1038/ng1507.
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