Dental malformations associated with biallelic MMP20 mutations

Author
Kasımoğlu, Yelda
Wang, Shih-Kai
Zhang, Hong
Chavez, Michael B.
Hu, Yuanyuan
Koruyucu, Mine
Colvin, Connor D.
Kolli, Tamara N.
Tan, Michelle H.
Wang, Yin-Lin
Lu, Pei-Ying
Kim, Jung-Wook
Foster, Brian L.
Bartlett, John D.
Simmer, James P.
Hu, Jan C-C
Seymen, Figen
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Abstract
Background Matrix metallopeptidase 20 (MMP20) is an evolutionarily conserved protease that is essential for processing enamel matrix proteins during dental enamel formation. MMP20 mutations cause human autosomal recessive pigmented hypomaturation-type amelogenesis imperfecta (AI2A2; OMIM #612529). MMP20 is expressed in both odontoblasts and ameloblasts, but its function during dentinogenesis is unclear.
URI
http://hdl.handle.net/20.500.12627/4739
https://doi.org/10.1002/mgg3.1307
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