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Genotype-Phenotype Relationships and Endocrine Findings in Prader-Willi Syndrome

Prader-Willi syndrome (PWS) is a complex imprinting disorder related to genomic errors that inactivate paternally-inherited genes on chromosome 15q11-q13 with severe implications on endocrine, cognitive and neurologic systems, metabolism, and behavior. The absence of expression of one or more genes...

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Detalles Bibliográficos
Autores principales: Costa, Régis Afonso, Ferreira, Igor Ribeiro, Cintra, Hiago Azevedo, Gomes, Leonardo Henrique Ferreira, Guida, Letícia da Cunha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6923197/
https://www.ncbi.nlm.nih.gov/pubmed/31920975
http://dx.doi.org/10.3389/fendo.2019.00864