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WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome.

Clinical genetics - 1 Feb 2018

Suleiman J, Allingham-Hawkins D, Hashem M, Shamseldin H E, Alkuraya F S, El-Hattab A W

Abstract excerpt

The advancement in genomic sequencing has greatly improved the diagnostic yield for neurodevelopmental disorders and led to the discovery of large number of novel genes associated with these disorders. WDR45B has been identified as a potential intellectual disability gene through genomic sequencing of 2 large cohorts of affected individuals. In this report we present 6 individuals from 3 unrelated families with...

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PMID: 28503735
DOI: 10.1111/cge.13054

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