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Acampomelic campomelic dysplasia withSOX9 mutation

โœ Scribed by Thong, Meow-Keong ;Scherer, Gerd ;Kozlowski, Kazimierz ;Haan, Eric ;Morris, Lloyd

Book ID
101319248
Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
426 KB
Volume
93
Category
Article
ISSN
0148-7299

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๐Ÿ“œ SIMILAR VOLUMES

Acampomelic campomelic dysplasia: Furthe
Acampomelic campomelic dysplasia: Further radiographic variations
โœ Glass, Ronald B. J.; Rosenbaum, Kenneth N. ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 283 KB

Acampomelic campomelic dysplasia (ACD) is a rare genetic syndrome affecting bone and connective tissue. This syndrome is a variant of the more commonly encountered campomelic dysplasia but is characterized by the absence of long bone curvature (acampomelia). Affected children have a characteristical

Heterozygous SOX9 Mutations Allowing for
Heterozygous SOX9 Mutations Allowing for Residual DNA-binding and Transcriptional Activation Lead to the Acampomelic Variant of Campomelic Dysplasia
โœ Alex Staffler; Markus Hammel; Mandy Wahlbuhl; Christoph Bidlingmaier; Andreas W. ๐Ÿ“‚ Article ๐Ÿ“… 2010 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 416 KB ๐Ÿ‘ 1 views

Campomelic dysplasia is a malformation syndrome with multiple symptoms including characteristic shortness and bowing of the long bones (campomelia). CD, often lethal due to airway malformations, is caused by heterozygous mutations in SOX9, an SRY-related gene regulating testis and chondrocyte develo