Article
Tooth agenesis in a family and homozygous PAX9 mutation in exon 3: a case report.
World journal of orthodontics - 1 Jan 2008
Kula Katherine, Trimmell Justin, Lu Yongbo, Briscoe Patrick, Feng Jian Q
Abstract excerpt
AIM: To determine if the variable expression of tooth agenesis in a family whose members all presented with multiple and variable tooth agenesis is related to a mutation of the PAX9 gene. METHODS: The family was examined and its histories recorded. A buccal cheek swab was used to isolate DNA and sequencing of the PAX9 gene was performed. RESULTS: All family members had a homozygous point mutation at the 718...
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