Article
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2020
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
Abstract excerpt
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 nonsyndromic retinitis pigmentosa (RP). Here we describe the largest cohort to-date of HGSNAT-associated nonsyndromic...
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