Associated Papers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S2-Possibly_and_very_likely_solved_probands.xlsx › Sheet1
Corneal involvement in a case of autosomal dominant Stargardt-like macular dystrophy (STGD3) with ELOVL4 mutation.
Zhai Y et al.
Ophthalmic Genetics, 2022
Different Mutations in ELOVL4 Affect Very Long Chain Fatty Acid Biosynthesis to Cause Variable Neurological Disorders in Humans.
Agbaga MP
Advances in Experimental Medicine and Biology, 2016
A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity.
Mir H et al.
Bmc Medical Genetics, 2014
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