FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).
Publication
, Journal Article
Entesarian, M; Dahlqvist, J; Shashi, V; Stanley, CS; Falahat, B; Reardon, W; Dahl, N
Published in: Eur J Hum Genet
March 2007
Aplasia of lacrimal and salivary glands (ALSG) is an autosomal dominant congenital anomaly characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems. Affected individuals present with irritable eyes and dryness of the mouth with variable expressivity. Mutations in FGF10 were recently described in ALSG and in lacrimo-auriculo-dento-digital (LADD) syndrome which are overlapping clinical entities. We present here two families with ALSG associated with missense mutations (R80S and G138E, respectively) affecting highly conserved residues in FGF10. The clinical features of these patients further broaden the knowledge of FGF10-related phenotypes.
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Published In
Eur J Hum Genet
DOI
ISSN
1018-4813
Publication Date
March 2007
Volume
15
Issue
3
Start / End Page
379 / 382
Location
England
Related Subject Headings
- Salivary Glands
- Pedigree
- Mutation, Missense
- Molecular Sequence Data
- Male
- Lacrimal Apparatus
- Humans
- Genetics & Heredity
- Fibroblast Growth Factor 10
- Female
Citation
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MLA
NLM
Entesarian, M., Dahlqvist, J., Shashi, V., Stanley, C. S., Falahat, B., Reardon, W., & Dahl, N. (2007). FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG). Eur J Hum Genet, 15(3), 379–382. https://doi.org/10.1038/sj.ejhg.5201762
Entesarian, Miriam, Johanna Dahlqvist, Vandana Shashi, Christy S. Stanley, Babak Falahat, William Reardon, and Niklas Dahl. “FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).” Eur J Hum Genet 15, no. 3 (March 2007): 379–82. https://doi.org/10.1038/sj.ejhg.5201762.
Entesarian M, Dahlqvist J, Shashi V, Stanley CS, Falahat B, Reardon W, et al. FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG). Eur J Hum Genet. 2007 Mar;15(3):379–82.
Entesarian, Miriam, et al. “FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).” Eur J Hum Genet, vol. 15, no. 3, Mar. 2007, pp. 379–82. Pubmed, doi:10.1038/sj.ejhg.5201762.
Entesarian M, Dahlqvist J, Shashi V, Stanley CS, Falahat B, Reardon W, Dahl N. FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG). Eur J Hum Genet. 2007 Mar;15(3):379–382.
Published In
Eur J Hum Genet
DOI
ISSN
1018-4813
Publication Date
March 2007
Volume
15
Issue
3
Start / End Page
379 / 382
Location
England
Related Subject Headings
- Salivary Glands
- Pedigree
- Mutation, Missense
- Molecular Sequence Data
- Male
- Lacrimal Apparatus
- Humans
- Genetics & Heredity
- Fibroblast Growth Factor 10
- Female