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Quintessence Publishing: Journals: ORTHODONTICS
ORTHODONTICS
The Art and Practice of Dentofacial Enhancement

Formerly World Journal of Orthodontics

Edited by
Rafi Romano, DMD, MSc (Editor-in-Chief)

ISSN 2160-2999 (print) / ISSN 2160-3006 (online)

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Publication:
Winter 2008
Volume 9 , Issue 4

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Tooth agenesis in a family and homozygous PAX9 mutation in exon 3: A case report

Katherine Kula, MS, DMD, MS/Justin Trimmell, DDS, MS Resident/Yongbo Lu, PhD Patrick Briscoe, DDS, MS Resident/Jian Q. Feng, MD, PhD

Page: 412
PMID: 19641755

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 position (G to C) in exon 3 (a nonpaired domain) of PAX9. Conclusion: The variable expression of tooth agenesis in this family suggests that clinicians should carefully examine all members of a family in which tooth agenesis is identified. World J Orthod 2008;9:412.e5561.

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