Article
A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease.
Clinical & experimental optometry - 1 Mar 2018
Andarva Monavvar, Jamshidi Javad, Ghaedi Hamid, Daftarian Narsis, Emamalizadeh Babak, Alehabib Elham, Taghavi Shaghyegh, Pouriran Ramin, Darvish Hossein
Abstract excerpt
BACKGROUND: Norrie disease (ND) is a rare, X-linked recessive disorder with the main characteristic of early childhood blindness. The aim of the present study was to identify the genetic cause of the disease and the phenotypic characteristics of the patients in an Iranian family with four affected males with ND. METHODS: Norrie disease pseudoglioma (NDP) gene was sequenced and clinical examination was performed...
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