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Fig. 3 | Diagnostic Pathology

Fig. 3

From: Abernethy malformation associated with Caroli’s syndrome in a patient with a PKHD1 mutation: a case report

Fig. 3

Genetic characterisation of Caroli’s syndrome was performed via PKHD1 mutational analysis. a Results from next-generation sequencing of the patient’s genome. A heterozygous mutation (A > G, frequency: 61.45%) was detected in exon 20 (c.1877) of the PKHD1 gene. b Parental mutation analysis in PKHD1 exon 20. The same heterozygous missense mutation (c.1877A > G, p.Lys626Arg) was detected in the father (arrow, left), while the mother carried the wild-type genotype (arrow, right)

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