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Whole exome sequencing: the effective detection of novel causative mutation in the ALOX12B gene associated with congenital ichthyosis in an Iranian family
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  • Saeedeh Talebi pour,
  • Mojdeh Soori,
  • Ramin Lshanizadegan,
  • Maryam Sobhani,
  • Hamzeh Salmani Hamzeh Salmani
Saeedeh Talebi pour
Shahid Bahonar University of Kerman
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Mojdeh Soori
Tehran University of Medical Sciences
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Ramin Lshanizadegan
University of Social Welfare and Rehabilitation Science
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Maryam Sobhani
Iranian Blood Transfusion Organization
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Hamzeh Salmani Hamzeh Salmani
Tehran University of Medical Sciences

Corresponding Author:[email protected]

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Abstract

Autosomal recessive congenital ichthyoses (ARCI) are rare and genetically heterogeneous inherited disorders of keratinization characterized by hyperkeratosis, dry, and scaly skin. So far, a number of genes associated with ichthyosis have been identified that are involved in lipid metabolism and the formation of the stratum corneum