Two Italian Patients with <i>ELOVL4</i>-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization

Two Italian Patients with <i>ELOVL4</i>-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization

Elongation of Very Long Chain Fatty Acid-4 (ELOVL4) is a fatty acid elongase responsible for very long-chain fatty acid biosynthesis in the brain, retina, and skin. Heterozygous mutations in <i>ELOVL4</i> gene cause Stargardt-like macular dystrophy and spinocerebellar ataxia type-34, whi...

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Bibliographic Details
Main Authors: Andrea Diociaiuti, Diego Martinelli, Francesco Nicita, Claudia Cesario, Elisa Pisaneschi, Marina Macchiaiolo, Sabrina Rossi, Angelo Giuseppe Condorelli, Giovanna Zambruno, May El Hachem
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:Genes
Subjects:
ELOVL4
ichthyosis
collodion baby
dysmorphism
epilepsy
developmental delay
Online Access:https://www.mdpi.com/2073-4425/12/3/343

Internet

https://www.mdpi.com/2073-4425/12/3/343

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