Spectrum of pathogenic variants and multiple founder effects in amelogenesis imperfecta associated with MMP20
Georgios Nikolopoulos, Claire E. L. Smith, James A. Poulter, Gina Murillo Knudsen, Sandra Silva, Teresa Lamb, Ian R Berry, Catriona J. Brown, Peter F. Day, Francesca A Soldani, Suhaila Al‐Bahlani, Sarah Anne Harris, Mary J. O’Connell, Chris F. Inglehearn, Alan J. Mighell
The paper identifies new pathogenic variants in the MMP20 gene associated with autosomal recessive amelogenesis imperfecta and explores their genetic origins across different populations.
Human Mutation · Feb 18, 2021Peer-reviewedMolecular Biology