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Deletion of amelotin exons 3–6 is associated with amelogenesis imperfecta
(2016-07-12)
Amelogenesis imperfecta (AI) is a heterogeneous group of genetic conditions that result in defective dental enamel formation. Amelotin (AMTN) is a secreted protein thought to act as a promoter of matrix mineralization in ...
A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing
(2015-10-04)
Biallelic FAM20A mutations cause two conditions where Amelogenesis Imperfecta (AI) is the presenting feature: Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome; and Enamel Renal Syndrome. A distinctive oral phenotype ...
Hallazgos fenotípicos por imágenes con Tomografía Dental Volumétrica (TDV) en amelogénesis imperfecta
(2016)
Amelogénesis imperfecta (AI) se describe como un conjunto de defectos mendelianos en la biomineralización del esmalte dental, los cuales son severos en la mayoría de los casos al presentar anormalidades tales como un grosor ...