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Keywords: AI IIA3
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Journal Articles
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.
Published Online: 19 October 2012
...-recessive hypomaturation type of isolated AI. The mutation described in our patients specifies the diagnosis AI IIA3 and represents only the sixth WDR72 mutation reported so far. The WDR72 protein is critical for dental enamel formation, but its exact function is still unknown. 19 10 2012...
