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A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype

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A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene

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Macular dystrophy in Heimler syndrome

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Electrophysiological findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene

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