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The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Kruijt CC, Gradstein L, Bergen AA, Florijn RJ, Arveiler B, Lasseaux E, Zanlonghi X, Bagdonaite-Bejarano L, Fulton AB, Yahalom C, Blumenfeld A, Perez Y, Birk OS, de Wit GC, Schalij-Delfos NE, van Genderen MM. Kruijt CC, et al. Invest Ophthalmol Vis Sci. 2022 Jan 3;63(1):19. doi: 10.1167/iovs.63.1.19. Invest Ophthalmol Vis Sci. 2022. PMID: 35029636 Free PMC article.
Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation.
Wang J, Li W, Zhou N, Liu J, Zhang S, Li X, Li Z, Yang Z, Sun M, Li M. Wang J, et al. BMC Med Genomics. 2021 Jan 6;14(1):12. doi: 10.1186/s12920-020-00851-5. BMC Med Genomics. 2021. PMID: 33407466 Free PMC article.
METHODS: Direct sequencing of the coding regions of KITLG was performed. Pathogenicity prediction was performed using bioinformatics tools, including SIFT, Polyphen2, and SWISS-MODEL, and the results were further evaluated according to the 2015 American College of Medical …
METHODS: Direct sequencing of the coding regions of KITLG was performed. Pathogenicity prediction was performed using bioinformatics …