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Publication year
2006Source
Nature Genetics, 38, 4, (2006), pp. 414-417ISSN
Publication type
Article / Letter to editor

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Organization
Human Genetics
Physiology
Otorhinolaryngology
Journal title
Nature Genetics
Volume
vol. 38
Issue
iss. 4
Page start
p. 414
Page end
p. 417
Subject
DCN 1: Perception and Action; DCN 2: Functional Neurogenomics; IGMD 3: Genomic disorders and inherited multi-system disorders; NCMLS 6: Genetics and epigenetic pathways of disease; UMCN 5.1: Genetic defects of metabolism; UMCN 5.1: Genetic defects of metabolismAbstract
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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- Electronic publications [103316]
- Faculty of Medical Sciences [81055]
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