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Article

Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report.

Italian journal of pediatrics - 29 Dec 2022

Wu Jinying, Lei Meifang, Wang Xuetao, Liu Nan, Xu Xiaowei, Gu Chunyu, Yu Yuping, Liu Wei

Abstract excerpt

BACKGROUND: Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by the loss of paternally expressed genes in the human chromosome region 15q11.2-q13. It is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity. Motor milestones and language development are...

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Identifiers

PMID: 36582000
DOI: 10.1186/s13052-022-01398-0
PMCID: PMC9798715

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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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