1. ARCI7 Revisited and Repositioned
Janan Mohamad, Natalya Malchin, Stavit Shalev, Ofer Sarig, Eli Sprecher 
Journal of Investigative Dermatology 
Volume 137, Issue 4, Pages (April 2017)
DOI: /j.jid
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2. Figure 1
Molecular analysis of ARCI7-related families. The two families initially reported as affected with ARCI resulting from mutations linked to ARCI7 were reassessed. (a) Family 1 (left panel) comprises the restricted kindred reported in the initial report of ARCI7 (Mizrachi-Koren et al., 2005) boxed in red, as well as two additional branches, one of which (boxed in blue) led to the identification of a causative homozygous mutation in ALOX12B (c.1670T>A) in all affected individuals (right upper panel). Healthy siblings of affected individuals were either heterozygous carriers of the mutation (right middle panel) or homozygous carriers of the wild-type (WT) allele (right lower panel). +/+ denotes homozygous carriers of c.1670T>A; +/− denotes heterozygous carriers of c.1670T>A; −/− denotes homozygous carriers of the WT allele. (b) Family 2 (left panel) comprises two affected individuals who were found to carry a homozygous mutation in SDR9C7 (c del) (right upper panel). Healthy family members were either heterozygous carriers of the mutation (right lower panel) or homozygous carriers of the WT allele (right middle panel). +/+ denotes homozygous carriers of c del; +/− denotes heterozygous carriers of c del; −/− denotes homozygous carriers of the WT allele. ARCI, autosomal recessive congenital ichthyoses.
Journal of Investigative Dermatology  , DOI: ( /j.jid )
Copyright © 2016 The Authors Terms and Conditions