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Human Molecular Genetics|February 25, 2016
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant colobomaChunqiao Liu, Sonya A Widen, Kathleen A Williamson, et al.JCI Insight|January 25, 2019
One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1BDavid R Adams, Supriya Menezes, Ramon Jauregui, et al.Biorxiv : the Preprint Server for Biology|November 24, 2025
Ampyrone (4-Aminoantipyrine) is a Direct Agonist of Human Tyrosinase and Potential Therapeutic for Oculocutaneous Albinism and Disorders of HypopigmentationMonika B Dolinska, Yuhong Wang, Nathan P Coussens, et al.Investigative Ophthalmology & Visual Science|November 3, 2022
Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure ClosureElangovan Boobalan, Amy H Thompson, Ramakrishna P Alur, et al.Pageof 2