Article

Heterozygous loss-of-functionSMC3variants are associated with variable and incompletely penetrant growth and developmental features

2023-09-28

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Heterozygous missense variants and in-frame indels in SMC3 are a cause of Cornelia de Lange syndrome (CdLS), marked by intellectual disability, growth deficiency, and dysmorphism, via an apparent dominant-negative mechanism. However, the spectrum of manifestations associated with SMC3 loss-of-function variants has not been reported, leading to hypotheses of alternative phenotypes or even developmental lethality. W...

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Literature Corpus work: 06389d28-eef8-593c-98d1-489f365ade86
DOI: 10.1101/2023.09.27.23294269

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Heterozygous loss-of-functionSMC3variants are associated with variable and incompletely penetrant growth and developmental featuresDOI 10.1101/2023.09.27.23294269Read

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Heterozygous loss-of-function<i>SMC3</i>variants are associated with variable and incompletely penetrant growth and developmental features

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