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Does the Genetic Cause of Prader-Willi Syndrome Explain the Highly Variable Phenotype?

INTRODUCTION: Prader-Willi syndrome (PWS) is characterized by extensive clinical and genetic variability caused by lack of expression of imprinted genes of the chromosomal region 15q11.2-q13. The genotye-phenotype correlation has not been yet fully elucidated. AIM: To analyze these correlations in o...

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Publicado no:Maedica (Bucur)
Main Authors: Dobrescu, Andreea-Iulia, Chirita-Emandi, Adela, Andreescu, Nicoleta, Farcas, Simona, Puiu, Maria
Formato: Artigo
Idioma:Inglês
Publicado em: Tarus Media 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5486159/
https://ncbi.nlm.nih.gov/pubmed/28694852
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