Deleterious mutations in aldh1l2 suggest novel cause for neuro-ichthyotic syndrome neuro-ichthyotic syndromes are group of rare genetic diseases mainly associated with perturbations in lipid metabolism intracellular vesicle trafficking or glycoprotein synthesis

HIGHLIGHTS

• who: CASE REPORT and colleagues from the Published in partnership with CEGMR, King Abdulaziz University have published the research: Deleterious mutations in ALDH1L2 suggest novel cause for neuro-ichthyotic syndrome Neuro-ichthyotic syndromes are group of rare genetic diseases mainly associated with perturbations in lipid metabolism intracellular vesicle trafficking or glycoprotein synthesis, in the Journal: (JOURNAL)
• what: The authors report a patient with a congenital neuro-ichthyotic syndrome but atypical phenotype displaying dysmorphic features, and abnormalities on MRI and MR (1H-MRS) spectroscopy in the absence of ALDH3A2 gene mutations and no spastic paraplegia to . . .
  

   

  

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