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Fig. 1 | BMC Medical Genetics

Fig. 1

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

Fig. 1

Brain magnetic resonance imaging (MRI) findings for the Joubert syndrome individual. Molar tooth sign with moderate cerebellar vermis hyoplasia, lengthening and thickening of superior cerebellar peduncles as well as superior cerebellar dysplasia as indicated by white arrows. a T2-weighted image. b T1-weighted image. c Pedigree of Joubert syndrome patient

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BMC Medical Genetics

ISSN: 1471-2350

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