Yellow mutant albinism: Cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism

F. Hu, J. M. Hanifin, G. H. Prescott, A. C. Tongue

Research output: Contribution to journalArticle

18 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)387-395
Number of pages9
JournalAmerican Journal of Human Genetics
Volume32
Issue number3
StatePublished - Dec 1 1980

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Yellow mutant albinism: Cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism'. Together they form a unique fingerprint.

  • Cite this