Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree
Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree
About this item
Full title
Author / Creator
Jiang, Keke , Wang, Shuying , Sun, Huixin , Peng, Chuanzhi , Li, Nan , Li, Shuchan , Gao, Rongyu and Zhang, Jie
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Purpose
Norrie disease (ND) is a rare X‐linked recessive disorder characteristic of early childhood blindness. While several mutations in the NDP gene have been reported as causative for ND, the genetic etiology remains unknown for many patients. This study aims to describe a novel mutation and explore the clinical manifestations in a Chinese fa...
Alternative Titles
Full title
Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2906179845
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2906179845
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.2345
