Mutations in different components of FGF signaling in LADD syndrome
2006 | journal article; research paper. A publication with affiliation to the University of Göttingen.
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Mutations in different components of FGF signaling in LADD syndrome
Rohmann, E.; Brunner, H. G.; Kayserili, H.; Uyguner, O.; Nürnberg, G.; Lew, E. D. & Dobbie, A. et al. (2006)
Nature Genetics, 38(4) pp. 414-417. DOI: https://doi.org/10.1038/ng1757
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Details
- Authors
- Rohmann, Edyta; Brunner, Han G.; Kayserili, Hülya; Uyguner, Oya; Nürnberg, Gudrun; Lew, Erin D.; Dobbie, Angus; Eswarakumar, Veraragavan P.; Uzumcu, Abdullah; Ulubil-Emiroglu, Melike; Leroy, J. G.; Li, Y; Becker, C.; Lehnerdt, K.; Cremers, Cor W. R. J.; Yüksel Apak, Memnune; Nürnberg, Peter; Kubisch, Christian; Schlessinger, Joseph; Bokhoven, Hans van; Wollnik, Bernd
- Abstract
- Lacrimo-auriculo-dento-digital (LADD) syndrome is characterized by lacrimal duct aplasia, malformed ears and deafness, small teeth and digital anomalies. We identified heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 and 3 (FGFR2, FGFR3) in LADD families, and in one further LADD family, we detected a mutation in the gene encoding fibroblast growth factor 10 (FGF10), a known FGFR ligand. These findings increase the spectrum of anomalies associated with abnormal FGF signaling.
- Issue Date
- 2006
- Journal
- Nature Genetics
- ISSN
- 1061-4036
