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Article

Sleep correlates of behavior functioning in Cornelia de Lange syndrome.

American journal of medical genetics. Part A - 1 Nov 2024

Ng Rowena, Grados Marco, O'Connor Julia, Summa Deirdre, Kline Antonie D

Abstract excerpt

Pathogenic variants in the cohesin genes, NIPBL and SMC1A, both cause Cornelia de Lange syndrome (CdLS), a rare genetic disorder associated with developmental delay and intellectual disability. This study aimed to compare sleep behaviors across individuals with CdLS caused by a variant in NIPBL or SMC1A, and identify relationships between sleep and behavior functioning. A total of 31 caregivers of individuals...

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Source

Identifiers

PMID: 39394947
DOI: 10.1002/ajmg.a.63793

Genes

NIPBL
SMC1A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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