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CASE REPORT
Year : 2019  |  Volume : 37  |  Issue : 3  |  Page : 150-153

Case report of two brothers with a novel homozygous mutation in ALOX12B leads to autosomal recessive congenital ichthyosis: Which type and which subtype? Two siblings with a novel homozygous mutation in ALOX12B


Department of Medical Genetics, Faculty of Medicine, University of Harran, Sanliurfa, Turkey

Correspondence Address:
Dr. Evren Gumus
Department of Medical Genetics, Faculty of Medicine, University of Harran, 630 00 Sanliurfa
Turkey
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ds.ds_35_18

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Ichthyosis is a heterogeneous group of rare genetic skin disorders characterized by furfuraceous and dry skin. The classification of ichthyosis has always been a challenging process as genodermatoses. Here, we report a novel homozygous mutation in ALOX12B in two siblings with autosomal recessive congenital ichthyosis. We aimed to evaluate two brothers' genotype-phenotype association in the light of the last nomenclature information.


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