Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta

A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)

M Lagerström, Niklas Dahl, Yutaka Nakahori et al. · Genomics · 1991 · 286 citations

Developmental Biology, Genetic Disorder, Mixed-phenotype Acute Leukemia +7

Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta

M. Helen Rajpar · Human Molecular Genetics · 2001 · 238 citations

Amelogenesis imperfecta: prevalence and incidence in a northern Swedish county

Birgitta Bäckman, Anna‐Karin Holm · Community Dentistry And Oral Epidemiology · 1986 · 215 citations

ENAM Mutations in Autosomal-dominant Amelogenesis Imperfecta

Jung‐Wook Kim, Figen Seymen, Binwei Lin et al. · Journal of Dental Research · 2005 · 132 citations

Biology, Developmental Anomaly, Allelic Variant +12

A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2)

Carina Kärrman Mårdh · Human Molecular Genetics · 2002 · 129 citations · Full text

Developmental Anomaly, Allelic Variant, Developmental Biology +14