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

✍ Scribed by Dorit Lev; Yuval Weigl; Mariana Hasan; Eva Gak; Michael Davidovich; Chana Vinkler; Esther Leshinsky-Silver; Tally Lerman-Sagie; Nathan Watemberg

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 207 KB
Volume: 143A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31531

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