Background: The syndromic and non-syndromic congenital missing teeth phenotype is
termed tooth agenesis. Since tooth agenesis is a heterogeneous disorder hence, the …

Background Tooth agenesis is a common dental anomaly that can substantially affect both
the ability to chew and the esthetic appearance of patients. This study aims to identify …

Congenital tooth agenesis in human is characterized by failure of tooth development during
tooth organogenesis. 300 genes in mouse and 30 genes in human so far have been known …

Abstract Regulatory Factor X (RFX) transcription factors are important for development and
are likely involved in the pathogenesis of serious human diseases including ciliopathies …

This study investigated the genetic basis of an unusual autosomal dominant phenotype
characterized by familial absent uvula, with a short posterior border of the soft palate …

Isolated hypodontia, or congenital absence of one to six permanent teeth (OMIM 300606), is
a common condition that affects about 20% of individuals worldwide. We identified two …

Background Five regulatory factor X (RFX) transcription factors (TFs)–RFX1-5–have been
previously characterized in the human genome, which have been demonstrated to be critical …

Selective tooth agenesis is a congenital disorder divided into two types based on the
number of missing teeth, ie hypodontia which is the absence of< 6 teeth and oligodontia …

Human genetic disease needs differential diagnosis to optimize clinical management,
enable prenatal detection, and genetic counselling. The current methods of robust DNA …

Teeth are important organs for humans and many other organisms. They are important when
eating, grinding the food in smaller pieces and therefore making food easier to swallow. This …