Phenotypic and molecular description of an individual with a disruptive variant in the SULF2 gene.
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DOI: 10.1097/mcd.0000000000000309
Abstract: Greenwood Genetic Center, Greenwood, South Carolina, Department of Pediatrics, Department of Ophthalmology, Department of Radiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA, Unité de Glycobiologie Structurale et Fonctionnelle, UMR 8576 CNRS, Université… read more here.
Keywords: department; phenotypic molecular; molecular description; description individual ... See more keywords