Dopachrome tautomerase variants in patients with oculocutaneous albinism.

Perrine PennamenAngèle Tingaud-SequeiraIveta GazovaMargaret KeighrenLisa McKieSandrine MarlinSouad Gherbi HalemJosseline KaplanCédric DelevoyeDidier LacombeClaudio PlaisantVincent MichaudEulalie LasseauxSophie JaverzatIan JacksonBenoit Arveiler

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

DCT is the gene for a new type of oculocutaneous albinism that we propose to name OCA8.

Keyphrases

copy number
genome wide
genome wide identification
dna methylation
gene expression
transcription factor