Oculo-cutaneous albinism type 4 (oca4): phenotype-genotype correlation

HIGHLIGHTS

  • who: Ester Moreno-Artero et al. from the Department of Dermatology, and Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC), Necker-Enfants Malades, Paris, France Bordeaux University Hospital, Bordeaux, France have published the research work: Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation, in the Journal: Genes 2022, 13, 2198. of /2022/
  • how: The authors identified two main phenotypes via the analysis of 30 patients with molecularly proven diagnosis.

SUMMARY

    Albinism is an autosomal recessive or X-linked disorder, present worldwide, that affects melanin production in the skin, hair . . .

     

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