A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis

por Schiff, Elena R., Daich Varela, Malena, Robson, Anthony G., Pierpoint, Karen, Ba‐Abbad, Rola, Nutan, Savita, Zein, Wadih M., Ullah, Ehsan, Huryn, Laryssa A., Tuupanen, Sari, Mahroo, Omar A., Michaelides, Michel, Burke, Derek, Harvey, Katie, Arno, Gavin, Hufnagel, Robert B., Webster, Andrew R.
Publicado 2020