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
✦ LIBER ✦
Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia
✍ Scribed by Jari Honkaniemi; Juha-Pekka Kalkkila; Pasi Koivisto; Veikko Kähärä; Terho Latvala; Kalle Simola
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 158 KB
- Volume
- 139A
- Category
- Article
- ISSN
- 1552-4825
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