Article
Mutations in different components of FGF signaling in LADD syndrome.
Nature genetics - 1 Apr 2006
Rohmann Edyta, Brunner Han G, Kayserili Hülya, Uyguner Oya, Nürnberg Gudrun, Lew Erin D, Dobbie Angus, Eswarakumar Veraragavan P, Uzumcu Abdullah, Ulubil-Emeroglu Melike, Leroy Jules G, Li Yun, Becker Christian, Lehnerdt Kai, Cremers Cor W R J, Yüksel-Apak Memnune, Nürnberg Peter, Kubisch Christian, Kubisch Chriütian, Schlessinger Joseph, van Bokhoven Hans, Wollnik Bernd
Abstract excerpt
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...
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