Article
Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation.
International journal of paediatric dentistry - 1 Nov 2011
Haubek Dorte, Gjørup Hans, Jensen Lillian G, Juncker Inger, Nyegaard Mette, Børglum Anders D, Poulsen Sven, Hertz Jens M
Abstract excerpt
BACKGROUND. Autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI) is a disease with severe dental manifestations. OBJECTIVES. The aims were by means of a genome-wide linkage scan to search for the gene underlying the ADHCAI phenotype in a Danish five-generation family and to study the phenotypic variation of the enamel in affected family members. RESULTS. Significant linkage was found to a locus at...
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