Clinical utility gene card for: Wolfram syndrome

Eur J Hum Genet. 2016 Nov;24(11). doi: 10.1038/ejhg.2016.49. Epub 2016 May 25.

Authors

Mariya Moosajee^{1

2

3}, Patrick Yu-Wai-Man^{2

3

4}, Cécile Rouzier⁵, Maria Bitner-Glindzicz^{1

6}, Richard Bowman^{1

7}

Affiliations

¹ Great Ormond Street Hospital, London, UK.
² UCL Institute of Ophthalmology, London, UK.
³ Moorfields Eye Hospital, London, UK.
⁴ Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle, UK.
⁵ Department of Medical Genetics, Archet 2 Hospital, CHU of Nice, Nice, France.
⁶ UCL Institute of Child Health, London, UK.
⁷ London School of Hygiene and Tropical Medicine, London, UK.

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Aging, Premature / genetics
DNA Mutational Analysis
Exons
Genetic Testing / methods
Genotype
Hearing Loss, Sensorineural / genetics
Humans
Membrane Proteins / genetics
Mitochondrial Diseases / genetics
Mutation
Optic Atrophy / genetics
Pathology, Molecular
Risk Assessment
Sensitivity and Specificity
Wolfram Syndrome / diagnosis*
Wolfram Syndrome / epidemiology
Wolfram Syndrome / genetics*

Substances

CISD2 protein, human
Membrane Proteins
wolframin protein

Supplementary concepts

Wolfram Syndrome 2

Grants and funding