A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT , the gene associated with Sanfilippo C mucopolysaccharidosis-Reference-Cited by-同舟云学术

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

Published:2020-08-07 Issue:3 Volume:184 Page:631-643
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am J Med Genet

Author:

Schiff Elena R.¹²^ORCID,Daich Varela Malena³,Robson Anthony G.²⁴,Pierpoint Karen¹,Ba‐Abbad Rola¹²,Nutan Savita⁵,Zein Wadih M.³,Ullah Ehsan³,Huryn Laryssa A.³,Tuupanen Sari⁶,Mahroo Omar A.¹²⁷,Michaelides Michel¹²,Burke Derek⁸,Harvey Katie⁸,Arno Gavin¹²⁵^ORCID,Hufnagel Robert B.³,Webster Andrew R.¹²

Affiliation:

1. Genetics Service Moorfields Eye Hospital London UK

2. UCL Institute of Ophthalmology London UK

3. Ophthalmic Genetics and Visual Function branch National Eye Institute, National Institutes of Health Bethesda Maryland USA

4. Department of Electrophysiology Moorfields Eye Hospital London UK

5. North Thames Genomic Laboratory Hub Great Ormond Street NHS Foundation Trust London UK

6. Blueprint Genetics Espoo Finland

7. Section of Ophthalmology King's College London London UK

8. Enzyme Unit, Chemical Pathology, Paediatric Laboratory Medicine Great Ormond Street Hospital for Children NHS Foundation Trust London UK

Funder

National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology

UCL Institute of Ophthalmology, University College London