期刊
NATURE GENETICS
卷 38, 期 4, 页码 414-417出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1757
关键词
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资金
- NIAMS NIH HHS [R01-AR051886, R01-AR051448] Funding Source: Medline
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.
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