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D. Wieczorek
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Journal Articles

A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
A. Kuechler, J. Hentschel, I. Kurth, B. Stephan, E.-C. Prott, B. Schweiger, A. Schuster, D. Wieczorek, H.-J. Lüdecke
Journal: Molecular Syndromology
Mol Syndromol (2012) 3 (5): 223–229.
https://doi.org/10.1159/000343746
Published Online: 19 October 2012
View articletitled, A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature
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Journal Articles

First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
J. Beygo, K. Buiting, S. Seland, H.-J. Lüdecke, U. Hehr, C. Lich, B. Prager, D.R. Lohmann, D. Wieczorek
Journal: Molecular Syndromology
Mol Syndromol (2012) 2 (2): 53–59.
https://doi.org/10.1159/000335545
Published Online: 26 January 2012
View articletitled, First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome
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Journal Articles

Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
F. Kortüm, M. Chyrek, S. Fuchs, B. Albrecht, G. Gillessen-Kaesbach, U. Mütze, E. Seemanova, S. Tinschert, D. Wieczorek, G. Rosenberger, K. Kutsche
Journal: Molecular Syndromology
Mol Syndromol (2011) 2 (1): 27–34.
https://doi.org/10.1159/000334317
Published Online: 12 November 2011
View articletitled, Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies
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