Associated Papers
Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up.
Xiao P et al.
Frontiers in Genetics, 2025
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J et al.
Brain : a Journal of Neurology, 2024
Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.
Liu J et al.
Biorxiv : the Preprint Server for Biology, 2023
Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher-Neuhäuser Syndrome.
He J et al.
Frontiers in Genetics, 2022
Novel variants in PNPLA6 causing syndromic retinal dystrophy.
Wu S et al.
Experimental Eye Research, 2021
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