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Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation: The American Journal of Human Genetics
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Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis - Basel‐Vanagaite - 2016 - Clinical Genetics - Wiley Online Library
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Frontiers | Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS
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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism | Journal of Medical Genetics
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Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3 - Infante - 2017 - Clinical Case Reports - Wiley Online Library
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Prototypic CdLS patient from the classic (A), mild (B), and possible... | Download Scientific Diagram
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Cutaneous Manifestations of Cornelia de Lange Syndrome Clinical Presentation: History, Physical Examination
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