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Article

Neurobehavioral and developmental profiles: genotype-phenotype correlations in individuals with Cornelia de Lange syndrome.

Orphanet journal of rare diseases - 10 Mar 2024

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

Abstract excerpt

BACKGROUND: Cornelia de Lange (CdLS) is a rare genetic disorder that affects most body systems. Variants in multiple genes including NIPBL and SMC1A, can cause the syndrome. To date, literature on genotype-phenotype associations in individuals with CdLS is extremely limited, although studies suggest some differences in clinical phenotype severity across variants. This study aimed to examine and compare...

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Source

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Identifiers

PMID: 38462617
DOI: 10.1186/s13023-024-03104-1
PMCID: PMC10926648

Genes

NIPBL
SMC1A

Provenance

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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