Emmanuelle Souzeau Jennifer A Thompson Terri L McLaren John N De Roach Christopher P Barnett Tina M Lamey Jamie E Craig
Mol Vis
2018 Jul 21;24:478-484.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/30090012/
Eye Proteins / genetics Leber Congenital Amaurosis / genetics Myopia / genetics Night Blindness / genetics Nystagmus, Congenital / genetics Retinitis Pigmentosa / genetics Uniparental Disomy
Eye Proteins / genetics Leber Congenital Amaurosis / genetics Myopia / genetics Night Blindness / genetics Nystagmus, Congenital / genetics Retinitis Pigmentosa / genetics Uniparental Disomy Case Reports Research Support, Non-U.S. Gov't Chromosomes, Human, Pair 6 / chemistry Electroretinography Female Gene Expression Homozygote Humans Leber Congenital Amaurosis / diagnosis Leber Congenital Amaurosis / pathology Maternal Inheritance Mutation Myopia / diagnosis Myopia / pathology Night Blindness / diagnosis Night Blindness / pathology Nystagmus, Congenital / diagnosis Nystagmus, Congenital / pathology Retinitis Pigmentosa / diagnosis Retinitis Pigmentosa / pathology Young Adult Eye Proteins TULP1 protein, human
PMC6066270
30090012
Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy
2018