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Akbar Zamani

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Articles

Identification of Novel Mutation in the ABCA12 Gene Causing Harlequin Ichthyosis

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By Nadia Soltani, Zahra Bayati, Mohsen Soosanabadi, Akbar Zamani
| Wiley Online Library Verified
1 Introduction Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous group of disorders characterized by hyperkeratosis in addition to dry, scaly skin [1]. In patients with ARCI, three main phenotypes have been identified: harlequin ichthyosis, congenital ichthyosiform erythroderma, and lamellar ichthyosis [2]. Among the various types of ichthyosis, HI is a severe and often fatal subtype, with the highest mortality rate among affected newborns [3, 4].
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