Volume 11, Issue S1 pp. S62-S65
Mutation in Brief
Free Access

Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia

Piette P. Deutz-Terlouw

Piette P. Deutz-Terlouw

MGC Department of Human Genetics and Clinical Genetic Center, Leiden University, 2333 AL Leiden, The Netherlands

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Monique Losekoot

Corresponding Author

Monique Losekoot

MGC Department of Human Genetics and Clinical Genetic Center, Leiden University, 2333 AL Leiden, The Netherlands

MGC Dept. of Human Genetics and Clinical Genetic Center, Leiden University, 2322 AL Leiden, The Netherlands. Fax: 31-71-527-6075Search for more papers by this author
Cora M. Aalfs

Cora M. Aalfs

Department of Human Genetics and Pediatrics, Academical Medical Center, University of Amsterdam, Amsterdam, The Netherlands

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Raoul C.M. Hennekam

Raoul C.M. Hennekam

Department of Human Genetics and Pediatrics, Academical Medical Center, University of Amsterdam, Amsterdam, The Netherlands

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Egbert Bakker

Egbert Bakker

MGC Department of Human Genetics and Clinical Genetic Center, Leiden University, 2333 AL Leiden, The Netherlands

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First published: 28 April 2011
Citations: 29
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