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Scrutinizing the trio whole-exome sequencing data revealed novel compound heterozygous mutations of <jats:italic>COL27A1<\/jats:italic> (c.[4229_4233dup]; [3718_5436del], p.[Gly1412Argfs*157];[Gly1240_Lys1812del]) in the proband, which were inherited from heterozygous parents. 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