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Paper Details

Exome sequencing identifies <i>PEX6</i> mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.
Mol Vis
6
2020
PBDs, PEX6, Retinitis Pigmentosa, Usher, Usher genes, ZSD, Zellweger spectrum disorders, abnormal, blindness, custom gene panels, deaf-blindness, deafness, dysmorphism, enamel alteration, hearing impairment, inherited syndromic retinopathies, intellectual disability, nephrolithiasis, neurodevelopmental delay, non-syndromic hearing loss, patients, peroxisomal biogenesis disorders, retinal degeneration
Author NameAffiliation
Sergi Beltran
Sophia Derdak
Hakon HakonarsonThe Center for Applied Genomics, The Children's Hospital of Philadelphia
Hakon HakonarsonThe Perelman School of Medicine, University of Pennsylvania
Hakon HakonarsonThe Center for Applied Genomics, The Children's Hospital of Philadelphia
Hakon HakonarsonThe Perelman School of Medicine, University of Pennsylvania
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