Mutations in different components of FGF signaling in LADD syndrome

被引：153

作者：

Rohmann E. ^{[1
,2
]}

Brunner H.G. ^{[3
]}

Kayserili H. ^{[4
]}

Uyguner O. ^{[4
]}

Nürnberg G. ^{[5
,6
]}

Lew E.D. ^{[7
]}

Dobbie A. ^{[8
]}

Eswarakumar V.P. ^{[7
]}

Uzumcu A. ^{[4
]}

Ulubil-Emeroglu M. ^{[9
]}

Leroy J.G. ^{[10
]}

Li Y. ^{[1
,2
]}

Becker C. ^{[5
,6
]}

Lehnerdt K. ^{[11
]}

Cremers C.W.R.J. ^{[12
]}

Yüksel-Apak M. ^{[4
]}

Nürnberg P. ^{[5
,13
]}

Kubisch C. ^{[2
,13
]}

Schlessinger J. ^{[7
]}

Van Bokhoven H. ^{[3
]}

Wollnik B. ^{[1
,2
,4
]}

机构：

[1] Center for Molecular Medicine Cologne, University of Cologne

[2] Institute of Human Genetics, University of Cologne

[3] Department of Human Genetics, Radboud University Nijmegen Medical Center

[4] Medical Genetics Department, Istanbul Medical Faculty, Istanbul University

[5] Cologne Center for Genomics, University of Cologne

[6] RZPD Deutsches Ressourcenzentrum für Genomforschung GmbH

[7] Department of Pharmacology, Yale University School of Medicine, New Haven

[8] Genetic Service, St. James's University Hospital

[9] Ear, Nose and Throat Department, Istanbul Medical Faculty, Istanbul University

[10] Department of Medical Genetics, Ghent University Hospital

[11] HNO-Abteilung, Klinikum Dortmund

[12] Otorhinolaryngology, Radboud University Nijmegen Medical Center

[13] Institute for Genetics, University of Cologne

来源：

Nature Genetics | 2006年 / 38卷 / 4期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/ng1757

中图分类号：

学科分类号：

摘要：

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. © 2006 Nature Publishing Group.

引用

页码：414 / 417

页数：3

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