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This is Vinny. He has Cornelia de Lange Syndrome (CdLS). Please go to www.cdlsusa.org for more information.
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Frontiers | Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients
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Cornelia de Lange syndrome: To diagnose or not to diagnose in utero? - Avagliano - 2017 - Birth Defects Research - Wiley Online Library
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Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. | Semantic Scholar
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Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction | European Journal of Human Genetics
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Le syndrome de Cornelia de Lange : à propos de trois observations - ScienceDirect
Cornelia de Lange Syndrome: A Case Report of a Brazilian Boy - Ana C. Scarpelli, Isabela A. Pordeus, Vera L. Resende, Lia S. Castilho, Leandro S. Marques, Saul M. Paiva, 2011
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Chromatinopathies: A focus on Cornelia de Lange syndrome - Avagliano - 2020 - Clinical Genetics - Wiley Online Library
Genes | Free Full-Text | Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum