A novel missense mutation in the NDP gene in a child with norrie disease and severe neurological involvement including infantile spasms

American Journal of Medical Genetics, Part A

Volumn 143, Issue 9, 2007, Pages 921-924

  Lev, Dorit ^a   Weigl, Yuval ^b,c   Hasan, Mariana ^a,d   Gak, Eva ^b,c   Davidovich, Michael ^d   Vinkler, Chana ^a   Leshinsky Silver, Esther ^a   Lerman Sagie, Tally ^a   Watemberg, Nathan ^a  

^a WOLFSON MEDICAL CENTER   (Israel)

^b GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

^d MACCABI HEALTHCARE SERVICES   (Israel)

Author keywords

Hypsarrhythmia; Infantile spasms; NDP; Norrie disease; Novel mutation

Indexed keywords

CLONAZEPAM; PYRIDOXINE; VIGABATRIN;

AMINO ACID ANALYSIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL BLINDNESS; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; GENE FUNCTION; GENE MUTATION; HUMAN; INFANTILE SPASM; MALE; MISSENSE MUTATION; NORRIE DISEASE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

BASE SEQUENCE; BLINDNESS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; NERVOUS SYSTEM DISEASES; SPASMS, INFANTILE;

EID: 34247877648     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31531     Document Type: Article

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