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

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Presentation on theme: "Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene  Miia Melkoniemi, Han."— Presentation transcript:

1 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 (February 2000) DOI: /302750 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

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

3 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  , DOI: ( /302750) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

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

5 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  , DOI: ( /302750) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

6 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  , DOI: ( /302750) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

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