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Article

Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil.

Orphanet journal of rare diseases - 20 Jun 2024

Cintra Hiago Azevedo, Rocha Danielle Nascimento, da Costa Ana Carolina Carioca, Tyszler Latife Salomão, Freitas Silvia, de Araujo Leonardo Abreu, Crozoe Lisanne Incoutto, de Paula Luísa Ribeiro, Correia Patricia Santana, Gomes Leonardo Henrique Ferreira, da Cunha Guida Letícia

Abstract excerpt

BACKGROUND: Prader-Willi syndrome (PWS) is a genetic disorder characterized by abnormalities in the 15q11-q13 region. Understanding the correlation between genotype and phenotype in PWS is crucial for improved genetic counseling and prognosis. In this study, we aimed to investigate the correlation between genotype and phenotype in 45 PWS patients who previously underwent methylation-sensitive high-resolution...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38902749
DOI: 10.1186/s13023-024-03157-2
PMCID: PMC11188222

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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