Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.

Abstract excerpt

PURPOSE: Designating mutations as recessive or dominant is a function of the effect of the mutant allele on the phenotype. Genes in which both classes of mutations are known to exist are particularly interesting to study because these mutations typically define distinct pathogenic mechanisms at the molecular level. METHODS: We studied two consanguineous families with different eye phenotypes and used a...

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