Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia.

We describe the molecular analysis of three families with hypodontia involving primarily molar teeth and report two novel mutational mechanisms. Linkage analysis of two large families revealed that the hypodontia was linked to the PAX9 locus. These two families revealed missense mutations consisting of a glutamic acid substitution for lysine and a proline substitution for leucine within the paired domain of PAX9.

Temporomandibular disorder treatment outcomes: second report of a large-scale prospective clinical study.

Longitudinal studies of outcomes for temporomandibular disorder (TMD) treatment are rarely done and even when conducted often suffer methodological weaknesses. These may include the lack of valid outcome measures for symptom changes. This second report of a long-term multi-site study of 2104 treated, 250 untreated, and 44 long-term treated TMD patients is part of a continuing effort to study TMD treatment efficacy in a very large patient population.