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Article

Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome.

Italian journal of pediatrics - 23 Jul 2022

Zhang Lu, Liu Xiaoliang, Zhao Yunjing, Wang Qingyi, Zhang Yuanyuan, Gao Haiming, Zhang Bijun, Cui Wanting, Zhao Yanyan

Abstract excerpt

BACKGROUND: Prader-Willi syndrome (PWS) is a complex disorder caused by impaired paternally expressed genes on chromosome 15q11-q13. Variable findings have been reported about the phenotypic differences among PWS genetic subtypes. METHODS: A total of 110 PWS patients were diagnosed from 8,572 pediatric patients included from July 2013 to December 2021 by MLPA and MS-MLPA assays. Atypical deletions were defined by...

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Identifiers

PMID: 35870983
DOI: 10.1186/s13052-022-01319-1
PMCID: PMC9308266

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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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