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Fig. 2 | BMC Medical Genomics

Fig. 2

From: A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome

Fig. 2

Pedigree of Joubert syndrome patient and Sanger chromatograms. a Pedigree of the Joubert syndrome patient. b Sanger sequencing of KIAA0586 variant c.3303G > A. The black arrow indicates the position of variant. c Gel image for long PCR. Two fragments were obtained (2,747 bp and 1,367 bp) from the patient (II 2) and the father (I 1). d Sanger sequencing of KIAA0586 genomic deletion g.58,926,242–58,927,621del. Red arrow indicates the position of the break locus, and green arrow indicates the position of the connection locus

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