Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism. |
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Authors: | F Hu J M Hanifin G H Prescott A C Tongue |
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Abstract: | This report describes three sisters, including monozygotic (MZ) twins, with clinical, ultrastructural, and histochemical features typical of yellow mutant albinism; This form of albinism is clinically similar to the tyrosinase-positive type, but hair bulbs showed (1) organelles similar to red hair pheomelanosomes and (2) absence of tyrosinase activity. Classical tyrosinase-negative albinism was found in a maternal cousin of the probands. Pedigree analysis of this family suggests multiple alleles occupying a single locus. |
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