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Article

Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation.

Journal of autism and developmental disorders - 1 Nov 2022

Ajmone Paola Francesca, Allegri Beatrice, Cereda Anna, Michelini Giovanni, Dall'Ara Francesca, Mariani Milena, Rigamonti Claudia, Selicorni Angelo, Vizziello Paola, Costantino Maria Antonella

Abstract excerpt

Behavioural phenotype and autism-related traits of 38 patients affected by Cornelia de Lange syndrome (CdLS) were assessed using a specific neuropsychiatric protocol. Subsequently,we search for possible genotype-phenotype correlations comparing individuals with NIPBL variants and patients with negative molecular results. Firstly results showed a higher percentage of subjects with normal intellectual quotient (IQ)...

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Identifiers

PMID: 34751866
DOI: 10.1007/s10803-021-05343-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation.PMID 34751866Read ↗

Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype CorrelationSemantic proximity Read ↗

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

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[Analysis of genotypes and phenotypes of three children with Cornelia de Lange syndrome].Semantic proximity Read ↗

Clinical Severity Score as a Prognostic Indicator of Communicative Functioning in Cornelia de Lange Syndrome.Semantic proximity Read ↗

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The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study.Semantic proximity Read ↗

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