Pathogenic Variants in the ABCA12 Gene Associated to Autosomal Recessive Congenital Ichthyosis: Report of an Attenuated Phenotype by Gabriela Mantilla Beltrán, Ana María Navarro Pinilla, Diego Andrés Padilla Mantilla, Alfonso Suárez Camacho, Mónica Paola Novoa Candia

“…This article reports on the cases of two female patients with symptoms of palmoplantar keratoderma since birth and a variant in the ABCA12 gene that encodes an amino acid glucosylceramide transporter known as ABCA12. …”
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Harlequin Ichthyosis: Case Series by Huriye Ezveci, Sukran Dogru, Fatih Akkus, Kazim Gezginc

Subjects: “…ABCA12 mutation…”
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Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations by Hanife SAAT, Ibrahim SAHIN, Neslihan DUZKALE, Muzeyyen GONUL, Taha BAHSI

“…Seven novel variants were identified in ABCA12, ALOX12B, and ALOXE3. The most commonly mutated gene was TGM1, followed by ABCA12 and ALOX12B. …”
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Retinoid Therapy in a Case of Harlequin Ichthyosis with a Short Literature Review by Emad Bahashwan, Jaber Alfaifi, Sahar Elmaghawri Mohamed Moursi, Youssef Elbayoumi Soliman

“…Harlequin ichthyosis (HI) is a genetically inherited epidermal disorder due to the mutation of the ABCA12 gene, which is responsible for lipid transportation, and presents with large keratinised scales characterised by deep erythematous fissures, with ectropion and eclabium. …”
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RGB-D salient object detection based on BC2 FNet network by WANG Feng, CHENG Yongmei

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