A genetic and clinical study of individuals with...

American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2020 / 08

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

Schiff, Elena R., Varela, Malena D., Robson, Anthony G., Pierpoint, Karen, Ba‐Abbad, Rola, Nutan, Savita, Zein, Wadih M., Ullah, Ehsan, Huryn, Laryssa A., Tuupanen, Sari, Mahroo, Omar A., Michaelide
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Journal:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
DOI:
10.1002/ajmg.c.31822
Date:
August, 2020
File:
PDF, 6.46 MB
2020
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