A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity

@inproceedings{Mir2012ANR,
  title={A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity},
  author={Hina A Mir and Syed Irfan Raza and Muhammad Touseef and Mazhar Mustafa Memon and Muhammad Nasim Khan and Sulman Jaffar and Wasim Ahmad},
  booktitle={BMC Medical Genetics},
  year={2012}
}
A rare neuro-ichthyotic disorder characterized by ichthyosis, spastic quadriplegia and intellectual disability and caused by recessive mutations in ELOVL4, encoding elongase-4 protein has recently been described. The objective of the study was to search for sequence variants in the gene ELOVL4 in three affected individuals of a consanguineous Pakistani family exhibiting features of neuro-ichthyotic disorder. Linkage in the family was searched by genotyping microsatellite markers linked to the… CONTINUE READING

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