Syndromic albinism: a review of genetics and phenotypes.

  title={Syndromic albinism: a review of genetics and phenotypes.},
  author={Noah S. Scheinfeld},
  journal={Dermatology online journal},
  volume={9 5},
There are several syndromes of albinism associated with systemic pathology. These include Chediak-Higashi Syndrome (CHS), Hermansky-Pudlack Syndrome (HPS), Griscelli Syndrome (GS), Elejalde Syndrome (ES) and Cross-McKusick-Breen Syndrome (CMBS). In the last several years the genetic defects underlying some of these syndromes have been described. HPS is related to 7 genes in humans. GS is related to 3 genes: MYOVA, Rab-27A, and melanophilin (Mlph). CHS is related to one gene: LYST. The genetic… CONTINUE READING