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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Pubblicato in:Eur J Med Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2017
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Article
Accesso online: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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