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

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 child...

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Detalles Bibliográficos
Autores principales:	Wu, Jinying, Lei, Meifang, Wang, Xuetao, Liu, Nan, Xu, Xiaowei, Gu, Chunyu, Yu, Yuping, Liu, Wei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9798715/ https://www.ncbi.nlm.nih.gov/pubmed/36582000 http://dx.doi.org/10.1186/s13052-022-01398-0

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