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Title: Mutations in different components of FGF signaling in LADD syndrome.
Author(s): Rohmann, E.; Brunner, H.G. ; Kayserili, H.; Uyguner, O.; Nurnberg, G.; Lew, E.D.; Dobbie, A.; Eswarakumar, V.P.; Uzumcu, A.; Ulubil-Emeroglu, M.; Leroy, J.G.; Li, Y. ; Becker, C.; Lehnerdt, K.; Cremers, C.W.R.J. ; Yuksel-Apak, M.; Nurnberg, P.; Kubisch, C.; Schlessinger, J.; Bokhoven, J.H.L.M. van ; Wollnik, B.
Publication year: 2006
Source: Nature Genetics, vol. 38, iss. 4, (2006), pp. 414-417
ISSN: 1061-4036
DOI: https://doi.org/10.1038/ng1757
Publication type: Article / Letter to editor

Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/50020   https://hdl.handle.net/2066/50020

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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 metabolism
Organization: Human Genetics
Physiology
Otorhinolaryngology
Journal title:
Nature Genetics
Volume: vol. 38
Issue: iss. 4
Page start: p. 414
Page end: p. 417
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.

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