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The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies

7 Jun 2006

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PMID: 16761289
DOI: 10.1002/ajmg.a.31227

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The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomaliesPMID 16761289Read ↗

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Chromosome 22q11.2 Microduplication Syndrome: A Review of the Literature and 12 New Cases.Semantic proximity Read ↗

22q11.2 duplications: Expanding the clinical presentation.Semantic proximity Read ↗

Chromosome 22q11 deletion syndrome: Update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complicationsSemantic proximity Read ↗

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Molecular genetics of 22q11.2 deletion syndromeSemantic proximity Read ↗

Defining the clinical spectrum of deletion 22q11.2.Semantic proximity Read ↗

Review of the Pathophysiology and Clinical Manifestations of 22q11.2 Deletion and Duplication SyndromesSemantic proximity Read ↗

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Unraveling the genetic and developmental mysteries of 22q11 deletion syndromeSemantic proximity Read ↗

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