Albinism
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Publisher
Elsevier
Reference42 articles.
1. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism;Poulter;Am J Hum Genet,2013
2. Albinism: an underdiagnosed condition;Arveiler;J Invest Dermatol,2020
3. Clinical and genetic variability in children with partial albinism;Campbell;Sci Rep,2019
4. Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene;Monfermé;Br J Ophthalmol,2019
5. Molecular characterization of a series of 990 index patients with albinism;Lasseaux;Pigment Cell Melanoma Res,2018
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Functional Characterization of Splice Variants in the Diagnosis of Albinism;International Journal of Molecular Sciences;2024-08-08
2. Genotypic spectrum of albinism in Mali;Pigment Cell & Melanoma Research;2024-05-09
3. GENOTYPIC SPECTRUM OF ALBINISM IN MALI;2024-03-07
4. Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family;Hereditas;2024-02-06
5. The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism;BMC Medicine;2024-01-29
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