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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome

Fig. 2

Sanger chromatograms. a c.1147delC variant in PIBF1 in a heterozygous state in the proband (upper panel) and a heterozygous state in the mother (middle panel) and a wild-type homozygous state in the father (lower panel). b c.1054A > G variant in PIBF1 in a heterozygous state in the proband (upper panel) and a wild-type homozygous state in the mother (middle panel) and a heterozygous state in the father (lower panel). c c.1626 + 1G > A variant in AHI1 in a heterozygous state in the proband (upper panel) and a wild-type homozygous state in the mother (middle panel) and a heterozygous state in the father (lower panel)

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BMC Medical Genetics

ISSN: 1471-2350

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