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

Dorit Lev*, Yuval Weigl, Mariana Hasan, Eva Gak, Michael Davidovich, Chana Vinkler, Esther Leshinsky-Silver, Tally Lerman-Sagie, Nathan Watemberg

*Corresponding author for this work

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Medicine and Dentistry

Pharmacology, Toxicology and Pharmaceutical Science

Biochemistry, Genetics and Molecular Biology