Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene Miia Melkoniemi, Han.

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Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene Miia Melkoniemi, Han G. Brunner, Sylvie Manouvrier, Raoul Hennekam, Andrea Superti-Furga, Helena Kääriäinen, Richard M. Pauli, Ton van Essen, Matthew L. Warman, Jacky Bonaventure, Peter Miny, Leena Ala-Kokko The American Journal of Human Genetics Volume 66, Issue 2, Pages 368-377 (February 2000) DOI: 10.1086/302750 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees of families with OSMED The American Journal of Human Genetics 2000 66, 368-377DOI: (10.1086/302750) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 Radiographs of femur (left), humerus (middle), and spinal column (right) of patient DII:2 at age 16 mo The American Journal of Human Genetics 2000 66, 368-377DOI: (10.1086/302750) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 3 Patient G:II1 at age 18 mo The American Journal of Human Genetics 2000 66, 368-377DOI: (10.1086/302750) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 4 Left, Radiograph of spine of patient G:II1 at age 3 mo. Middle, Radiograph of left arm of patient G:II2 at age 9 mo. Right, Radiograph of anteroposterior pelvis and hips of patient G:II1 at age 2 years 5 mo. The American Journal of Human Genetics 2000 66, 368-377DOI: (10.1086/302750) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 5 Sequencing of PCR products from a control subject (top) and individual C:II1 (bottom), for exon 31 of the COL11A2 gene. The underlined sequence in the top panel indicates the deletion, whereas the underlined sequence in the bottom panel indicates the insertion. The American Journal of Human Genetics 2000 66, 368-377DOI: (10.1086/302750) Copyright © 2000 The American Society of Human Genetics Terms and Conditions