Publications by authors named "Curtis R Herzog"
WNT10A is a signaling molecule involved in tooth development, and WNT10A defects are associated with tooth agenesis. We characterized Wnt10a null mice generated by the knockout mouse project (KOMP) and six families with WNT10A mutations, including a novel p.Arg104Cys defect, in the absence of EDA,EDAR, or EDARADD variations.
View Article and Find Full Text PDFHypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.
Oral Surg Oral Med Oral Pathol Oral Radiol
February 2015
Article Synopsis
- This case report discusses a specific type of genetic condition called autosomal recessive pigmented hypomaturation amelogenesis imperfecta (AI), which affects dental enamel.
- Researchers discovered a new homozygous missense mutation in the SLC24A4 gene, which is important for proper enamel formation in teeth.
- The mutation is noted as g.165151 T>G; c.1317 T>G; p.Leu436 Arg, highlighting its specific genetic change and its role in disrupting the enamel hardening process.