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Article

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.

American journal of medical genetics. Part A - 1 Nov 2013

Gervasini Cristina, Russo Silvia, Cereda Anna, Parenti Ilaria, Masciadri Maura, Azzollini Jacopo, Melis Daniela, Aravena Teresa, Doray Bérénice, Ferrarini Alessandra, Garavelli Livia, Selicorni Angelo, Larizza Lidia

Abstract excerpt

We report on the clinical and molecular characterization of eight patients, one male and seven females, with clinical diagnosis of Cornelia de Lange syndrome (CdLS), who were found to carry distinct mutations of the SMC1A gene. Five of the eight mutations are novel, with two involving amino acid residues previously described as altered in a different way. The other three have been reported each in a single case....

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PMID: 24124034
DOI: 10.1002/ajmg.a.36252

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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