Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20

Amelogenesis imperfecta (AI) describes a heterogeneous group of developmental enamel defects that typically have Mendelian inheritance. Exome sequencing of 10 families with recessive hypomaturation AI revealed four novel and one known variants in the matrix metallopeptidase 20 (MMP20) gene that were...

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Veröffentlicht in:	Human mutation 2021-05, Vol.42 (5), p.567-576
Hauptverfasser:	Nikolopoulos, Georgios, Smith, Claire E. L., Poulter, James A., Murillo, Gina, Silva, Sandra, Lamb, Teresa, Berry, Ian R., Brown, Catriona J., Day, Peter F., Soldani, Francesca, Al‐Bahlani, Suhaila, Harris, Sarah A., O'Connell, Mary J., Inglehearn, Chris F., Mighell, Alan J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amelogenesis imperfecta Amelogenesis Imperfecta - genetics Amelogenesis Imperfecta - pathology Enamel Founder Effect Haplotypes Heredity Homozygote Humans hypomaturation AI Matrix Metalloproteinase 20 - genetics Metalloproteinase MMP20 Mutation Pedigree Phenotypes
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