Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis Caroline Michot, Carine Le Goff, Alice Goldenberg, Avinash Abhyankar, Céline.

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Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis Caroline Michot, Carine Le Goff, Alice Goldenberg, Avinash Abhyankar, Céline Klein, Esther Kinning, Anne-Marie Guerrot, Philippe Flahaut, Alice Duncombe, Genevieve Baujat, Stanislas Lyonnet, Caroline Thalassinos, Patrick Nitschke, Jean-Laurent Casanova, Martine Le Merrer, Arnold Munnich, Valérie Cormier-Daire The American Journal of Human Genetics Volume 90, Issue 4, Pages 740-745 (April 2012) DOI: 10.1016/j.ajhg.2012.03.003 Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 1 Pictures and X-Rays of Individuals 6 and 8 with PDE4D Mutations (A1 and B1) Full-face pictures of individuals 6 (A) and 8 (B) showing facial dysostosis with a flat nasal bridge and nasal hypoplasia. (A2 and B2) Profile pictures show malar hypoplasia. (A3) Palmar face of right hand. (A4 and B3) Dorsal face of hands, which are broad and shortened. (A5 and B4) Standard X-rays of both hands show severe brachydactyly with short, broad metacarpals and phalanges, cone-shaped epiphyses (arrows), and advanced carpal maturation. The American Journal of Human Genetics 2012 90, 740-745DOI: (10.1016/j.ajhg.2012.03.003) Copyright © 2012 The American Society of Human Genetics Terms and Conditions