TY  - GEN
AU  - Lin,Phoebe
AU  - Shankar,Suma P
AU  - Duncan,Jacque
AU  - Slavotinek,Anne
AU  - Stone,Edwin M
AU  - Rutar,Tina
TI  - Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband
SN  - 1528-3933
PY  - 2010///0611
KW  - Eye Diseases
KW  - genetics
KW  - Eye Proteins
KW  - Family Health
KW  - Humans
KW  - Infant
KW  - Macula Lutea
KW  - blood supply
KW  - Male
KW  - Nerve Tissue Proteins
KW  - Phenotype
KW  - Point Mutation
KW  - Retinal Vessels
KW  - abnormalities
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
UR  - https://doi.org/10.1016/j.jaapos.2009.11.012
ER  -