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Copy Number Variations in a Population with Prune Belly Syndrome

Prune Belly Syndrome (PBS) is a congenital multisystem myopathy with mild to lethal severity. While of uncertain etiology, 95% male predominance and familial occurrence suggest a genetic basis. As copy number variations (CNVs) can cause unexplained genetic disorders, we tested for novel CNVs in a la...

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Dades bibliogràfiques
Publicat a:Am J Med Genet A
Autors principals: Iqbal, Nida S., Jascur, Thomas A., Harrison, Steven, Chen, Catherine, Arevalo, Michelle K., Wong, Daniel, Sanchez, Emma, Grimsby, Gwen, Wilson, Kathleen, Baker, Linda A.
Format: Artigo
Idioma:Inglês
Publicat: 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6289753/
https://ncbi.nlm.nih.gov/pubmed/30285310
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.40476
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