Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 2.

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Fig. 2.

The family pedigree of our patient with harlequin ichthyosis carrying recessively inherited ABCA12 variants. The ABCA12 alleles are represented by “[=]” (wild-type) and “c.4139A>G (p.N1380S).” A partial deletion encompassing exon 9 and a missense mutation, found by targeted gene panel analysis were validated by quantitative polymerase chain reaction (PCR) and Sanger sequencing, respectively.

Journal of Genetic Medicine 2019;16:62-6
© 2019 Korean Society of Medical Genetics and Genomics