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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders

Fig. 1

a Pedigree of the family. Squares: males; circles: females. The filled circle represents the patient with Joubert syndrome and related disorders. b Axial T2-weighted magnetic resonance imaging of the brain showing mildly thickened and elongated superior cerebellar peduncles (arrowheads), a deepened interpeduncular fossa (thin arrow), and vermian hypoplasia (thick arrow)

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BMC Medical Genetics

ISSN: 1471-2350

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