TY  - GEN
AU  - Royer,Ghislaine
AU  - Hanein,Sylvain
AU  - Raclin,Valérie
AU  - Gigarel,Nadine
AU  - Rozet,Jean-Michel
AU  - Munnich,Arnold
AU  - Steffann,Julie
AU  - Dufier,Jean-Louis
AU  - Kaplan,Josseline
AU  - Bonnefont,Jean-Paul
TI  - NDP gene mutations in 14 French families with Norrie disease
SN  - 1098-1004
PY  - 2004///0126
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adolescent
KW  - Adult
KW  - Blindness
KW  - congenital
KW  - Child
KW  - Child, Preschool
KW  - DNA
KW  - chemistry
KW  - DNA Mutational Analysis
KW  - Deafness
KW  - pathology
KW  - Diagnosis, Differential
KW  - Eye Proteins
KW  - Family Health
KW  - Female
KW  - France
KW  - Humans
KW  - Infant
KW  - Intellectual Disability
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Mutation, Missense
KW  - Nerve Tissue Proteins
KW  - Pedigree
KW  - Phenotype
KW  - Retina
KW  - Sequence Deletion
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1002/humu.9204
ER  -