A novel NDP mutation in an infant with unilateral persistent fetal vasculature and retinal vasculopathy

Ophthalmic Genetics

Volumn 30, Issue 2, 2009, Pages 99-102

  Aponte, Elisabeth P ^a   Pulido, Jose S ^a   Ellison, Jay W ^a   Quiram, Polly A ^b   Mohney, Brian G ^a  

^a MAYO CLINIC   (United States)

^b VitreoRetinal Surgery   (United States)

Author keywords

NDP mutation; Norrie Disease; Persistant fetal vasculative; Retinal vasculopathy

Indexed keywords

COMPLEMENTARY DNA; DNA; NORRIE DISEASE PSEUDOGLIOMA PROTEIN; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG; EYE PROTEIN; NDP PROTEIN, HUMAN; NERVE PROTEIN;

ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; DNA SEQUENCE; ECHOOCULOGRAPHY; EXON; EYE EXAMINATION; GENE IDENTIFICATION; HUMAN; INFANT; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PERIPHERAL CIRCULATION; PERSISTENT FETAL VASCULATURE; PRIORITY JOURNAL; RETINA BLOOD VESSEL; RETINA DETACHMENT; RETINA DISEASE; RETINA VASCULOPATHY; RETINOBLASTOMA; SEQUENCE ANALYSIS; VITRECTOMY; CONGENITAL MALFORMATION; ECHOGRAPHY; GENETICS; NUCLEOTIDE SEQUENCE; PERSISTENT HYPERPLASTIC PRIMARY VITREOUS; POLYMERASE CHAIN REACTION;

DNA MUTATIONAL ANALYSIS; EXONS; EYE PROTEINS; HUMANS; INFANT; MALE; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PERSISTENT HYPERPLASTIC PRIMARY VITREOUS; POLYMERASE CHAIN REACTION; RETINAL DISEASES; RETINAL VESSELS; SEQUENCE ANALYSIS, DNA;

EID: 65449159045     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810802705755     Document Type: Article

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