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

Pathogenic variants in the gene HGSNAT (heparan‐α‐glucosaminide N‐acetyltransferase) have been reported to underlie two distinct recessive conditions, depending on the specific genotype, mucopolysaccharidosis type IIIC (MPSIIIC)—a severe childhood‐onset lysosomal storage disorder, and adult‐onset no...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8125330/
https://www.ncbi.nlm.nih.gov/pubmed/32770643
http://dx.doi.org/10.1002/ajmg.c.31822

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