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Family pedigree and genetic analysis of the index patient. (A) Pedigree of the index patient. Open symbol: unaffected; filled symbol: affected; arrow: proband. (B) Sanger sequencing traces confirm the de novo heterozygous c.379C > T (p.Gln127Ter) mutation in IRF2BPL. (C) Reported pathogenic variant, including the reported p.Gln127Ter variant (underlined) identified in the current study on the individual protein domain of IRF2BPL.
