NDP gene mutations in 14 French families with Norrie disease.

Royer, Ghislaine

NDP gene mutations in 14 French families with Norrie disease. [electronic resource] - Human mutation Dec 2003 - 499 p. digital

Publication Type: Journal Article

1098-1004

10.1002/humu.9204 doi


Abnormalities, Multiple--genetics
Adolescent
Adult
Blindness--congenital
Child
Child, Preschool
DNA--chemistry
DNA Mutational Analysis
Deafness--pathology
Diagnosis, Differential
Eye Proteins--genetics
Family Health
Female
France
Humans
Infant
Intellectual Disability--pathology
Male
Middle Aged
Mutation
Mutation, Missense
Nerve Tissue Proteins--genetics
Pedigree
Phenotype
Retina--pathology
Sequence Deletion