Rare copy number variants identified in prune belly syndrome

Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare congenital disorder characterized by absence or hypoplasia of the abdominal wall musculature, urinary tract anomalies, and cryptorchidism in males. The etiology of PBS is largely unresolved, but genetic factors are implicate...

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Detalhes bibliográficos
Publicado no:Eur J Med Genet
Main Authors: Boghossian, Nansi S., Sicko, Robert J., Giannakou, Andreas, Dimopoulos, Aggeliki, Caggana, Michele, Tsai, Michael Y., Yeung, Edwina H., Pankratz, Nathan, Cole, Benjamin R., Romitti, Paul A., Browne, Marilyn L., Fan, Ruzong, Liu, Aiyi, Kay, Denise M., Mills, James L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5803418/
https://ncbi.nlm.nih.gov/pubmed/29174092
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2017.11.008
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