Novel variants in PNPLA6 causing syndromic retinal dystrophy
Shijing Wu, Zixi Sun, Tian Zhu, Richard G. Weleber, Paul Yang, Xing Wei, Mark E. Pennesi, Ruifang Sui
Topics & Concepts
Hereditary spastic paraplegiaDystrophyMissense mutationMedicineRetinalRetinitis pigmentosaRetinal degenerationPhenotypeGeneticsSpasticOphthalmologyPathologyBiologyInternal medicineGenePsychiatryCerebral palsyUbiquitin and proteasome pathwaysMitochondrial Function and PathologyGenetic Neurodegenerative Diseases