Article
Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.
Journal of medical genetics - 1 Dec 2003
Hart T C, Hart P S, Gorry M C, Michalec M D, Ryu O H, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E
Abstract excerpt
The genetic basis of non-syndromic autosomal recessive forms of amelogenesis imperfecta (AI) is unknown. To evaluate five candidate genes for an aetiological role in AI. In this study 20 consanguineous families with AI were identified in whom probands suggested autosomal recessive transmission. Family members were genotyped for genetic markers spanning five candidate genes: AMBN and ENAM (4q13.3), TUFT1 (1q21),...
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