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Article

Functional Analysis of a De NovoACTBMutation in a Patient with Atypical Baraitser-Winter Syndrome

6 May 2013

Abstract excerpt

Exome sequence analysis can be instrumental in identifying the genetic etiology behind atypical disease. We report a patient presenting with microcephaly, dysmorphic features, and intellectual disability with a tentative diagnosis of Dubowitz syndrome. Exome analysis was performed on the patient and both parents. A de novo missense variant was identified in ACTB, c.349G>A, p.E117K. Recent work in Baraitser-Winter...

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PMID: 23649928
DOI: 10.1002/humu.22350

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Functional Analysis of a De NovoACTBMutation in a Patient with Atypical Baraitser-Winter SyndromePMID 23649928Read ↗

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