Associated Papers
Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity.
Laadhar S et al.
Molecular Genetics & Genomic Medicine, 2020
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
Ballin N et al.
Human Mutation, 2019
A Japanese Case of Ichthyosiform Erythroderma with a Novel Mutation in NIPAL4/Ichthyin.
Kusakabe M et al.
Acta Dermato-venereologica, 2017
Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis.
Maier D et al.
Clinical and Experimental Dermatology, 2016
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