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Fig. 1 | BMC Medical Genomics

Fig. 1

From: A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia

Fig. 1

Clinical summary for the patient. a Family pedigree. An unrelated natural couple who gave birth to the affected female. The black arrow denotes the proband. b The patient’s figure. c The patient’s axial brain MRI, which indicates the widening of the cerebral fissure and the shrinkage of the cerebellum. d PCR sequencing confirmed the CASK: NM_003688.3: exon 7: c.638T>G: p. L213R mutation in this family

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BMC Medical Genomics

ISSN: 1755-8794

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