Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity

Clin Genet. 2024 Jun 11. DOI: 10.1111/cge.14573 Online ahead of print.

Siying Lin  , Anthony G Robson  , Dorothy A Thompson  , Karolina M Stepien , Robin Lachmann , Emma Footitt , Ola Czyz , Shwetha Chandrasekhar , Elena Schiff  , Christos Iosifidis , Graeme C Black , Michel Michaelides  , Omar A Mahroo   , Gavin Arno   , Andrew R Webster  

https://pubmed.ncbi.nlm.nih.gov/38863195/