Mutations in different components of FGF signaling in LADD syndrome
Mutations in different components of FGF signaling in LADD syndrome
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DOI：
10.1038/ng1757
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发表时间：
2006-04-01
期刊：
影响因子：
30.8
通讯作者：
Wollnik, B
中科院分区：
文献类型：
--
作者：
Rohmann, E;Brunner, HG;Wollnik, B
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.
