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

Abstract 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...

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Detalhes bibliográficos
Principais autores: Lu Zhang, Xiaoliang Liu, Yunjing Zhao, Qingyi Wang, Yuanyuan Zhang, Haiming Gao, Bijun Zhang, Wanting Cui, Yanyan Zhao
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2022-07-01
coleção:Italian Journal of Pediatrics
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Acesso em linha:https://doi.org/10.1186/s13052-022-01319-1
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