Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene

Autor: Ratbi, Ilham, Jaouad, Imane Cherkaoui, Elorch, Hamza, Al-Sheqaih, Nada, Elalloussi, Mustapha, Lyahyai, Jaber, Berraho, Amina, Newman, William G., Sefiani, Abdelaziz
Zdroj: In European Journal of Medical Genetics October 2016 59(10):507-511
Databáze: ScienceDirect