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Updated: Aug 20, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A novel missense Norrie disease mutation associated with a severe ocular phenotype
Arif O Khan1, Farrukh A Shamsi, Amr Al-Saif
1King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia.
Journal of Pediatric Ophthalmology and Strabismus
|December 22, 2004
Abstract:
Clinical findings and pedigree analysis led to the diagnosis of severe Norrie disease in two brothers. DNA sequencing demonstrated a novel missense mutation (703G>T) that significantly alters predicted protein structure. Less severe retinal developmental disease may be associated with milder mutations in the Norrie disease gene.
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