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Mutation of CANT1 causes Desbuquois dysplasia

✍ Scribed by Maha Faden; Fatema Al-Zahrani; Dia Arafah; Fowzan S. Alkuraya


Book ID
101448738
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
180 KB
Volume
152A
Category
Article
ISSN
1552-4825

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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