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Teaching NeuroImages: Oculodentodigital dysplasia: Hypomyelination and syndactyly

โœ Scribed by Ganos, C.; Munchau, A.; Holst, B.; Schluter, G.; Gerloff, C.; Uyanik, G.


Book ID
118120999
Publisher
Lippincott Williams and Wilkins
Year
2012
Tongue
English
Weight
185 KB
Volume
79
Category
Article
ISSN
0028-3878

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A novel GJA1 mutation causes oculodentod
โœ C. Vitiello; P. D'Adamo; F. Gentile; E.M. Vingolo; P. Gasparini; S. Banfi ๐Ÿ“‚ Article ๐Ÿ“… 2005 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 124 KB

Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant pleiotropic disorder, caused by mutations in the Connexin 43 gene (GJA1) : Am J Hum Genet 72:408-418], which is localized to human chromosome 6q22-q23. Here, we describe the identification of a novel heterozygous missense mutation in th