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Introduction Clinical features Causes Investigations Treatment A melanotic macule is a well-defined, oval, brown to black, flat patch usually found on the central third of the lower lip, however it can more rarely occur on the penis or vulva
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Most genetic diseases associated with PDHc deficiency are due to mutations in either of the two subunits ( encoded by the PDHA1 gene or encoded by the PDHB gene) of the functional PDH heterotetramer of the PDHc
doi: 10.1111/and.13267
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