Article
A human MSX1 homeodomain missense mutation causes selective tooth agenesis.
Nature genetics - 1 Aug 1996
Vastardis H, Karimbux N, Guthua S W, Seidman J G, Seidman C E
Abstract excerpt
We demonstrate that a mutation in the homeobox gene, MSX1, causes a common developmental anomaly, familial tooth agenesis. Genetic linkage analyses in a family with autosomal dominant agenesis of second premolars and third molars identified a locus on chromosome 4p, where the MSX1 gene resides. Sequence analyses demonstrated an Arg31Pro missense mutation in the homeodomain of MSX1 in all affected family members....
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