GeneticsGenetics in MedicinePeer-reviewed
Dopachrome tautomerase variants in patients with oculocutaneous albinism.
Perrine Pennamen, Angèle Tingaud‐Sequeira, Iveta Gažová…·Benoı̂t Arveiler
The paper identifies DCT gene variants in two patients with oculocutaneous albinism, demonstrating their association with hypopigmentation and proposing a new subtype, OCA8.