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Cognitive-Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype-Phenotype Correlationships.

Genes - 15 Aug 2023

Bel-Fenellós Cristina, Biencinto-López Chantal, Sáenz-Rico Belén, Hernández Adolfo, Sandoval-Talamantes Ana Karen, Tenorio-Castaño Jair, Lapunzina Pablo, Nevado Julián

Abstract excerpt

(1) Background: 5p minus Syndrome (S5p-) is a neurodevelopmental disorder caused by a deletion in the short arm of chromosome 5. Among the phenotypic characteristics of S5p-, the most characteristic and representative element is a monochromatic cry with a high-pitched tone reminiscent of a cat's meow. Individuals may also show great phenotypic heterogeneity and great genetic variability. Regarding...

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Cognition
Genotype
Phenotype

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37628679
DOI: 10.3390/genes14081628
PMCID: PMC10454038

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