Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome

Neuro-ichthyotic syndromes are a group of rare genetic diseases mainly associated with perturbations in lipid metabolism, intracellular vesicle trafficking, or glycoprotein synthesis. Here, we report a patient with a neuro-ichthyotic syndrome associated with deleterious mutations in the ALDH1L2 (ald...

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Bibliografske podrobnosti
izdano v:NPJ Genom Med
Main Authors: Sarret, Catherine, Ashkavand, Zahra, Paules, Evan, Dorboz, Imen, Pediaditakis, Peter, Sumner, Susan, Eymard-Pierre, Eléonore, Francannet, Christine, Krupenko, Natalia I., Boespflug-Tanguy, Odile, Krupenko, Sergey A.
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group UK 2019
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6650503/
https://ncbi.nlm.nih.gov/pubmed/31341639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-019-0092-9
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