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

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 pediat...

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Detalles Bibliográficos
Autores principales: Zhang, Lu, Liu, Xiaoliang, Zhao, Yunjing, Wang, Qingyi, Zhang, Yuanyuan, Gao, Haiming, Zhang, Bijun, Cui, Wanting, Zhao, Yanyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9308266/
https://www.ncbi.nlm.nih.gov/pubmed/35870983
http://dx.doi.org/10.1186/s13052-022-01319-1