Enver Şimşek Tülay Şimşek Yıldız Dallar Önder Can Patrick J Willems
10.4274/jcrpe.v3i1.06
J Clin Res Pediatr Endocrinol
2011;3(1):29-31.
oculocerebrorenal syndrome novel pathogenic dna variation
CC BY
https://pubmed.ncbi.nlm.nih.gov/21448331/
DNA / genetics Oculocerebrorenal Syndrome / genetics Phosphoric Monoester Hydrolases / genetics Point Mutation
DNA / genetics Oculocerebrorenal Syndrome / genetics Phosphoric Monoester Hydrolases / genetics Point Mutation Case Reports Child, Preschool Humans Male Oculocerebrorenal Syndrome / physiopathology DNA Phosphoric Monoester Hydrolases OCRL protein, human
PMC3065313
21448331
A novel pathogenic DNA variation in the OCRL1 gene in Lowe syndrome
2011