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Establishing a reference group for distal 18q-: Clinical description and molecular basis

Although constitutional chromosome abnormalities have been recognized since the 1960s, clinical characterization and development of treatment options have been hampered by their obvious genetic complexity and relative rarity. Additionally, deletions of 18q are particularly heterogeneous, with no two...

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Detalhes bibliográficos
Main Authors: Cody, Jannine D., Hasi, Minire, Soileau, Bridgette, Heard, Patricia, Carter, Erika, Sebold, Courtney, O’Donnell, Louise, Perry, Brian, Stratton, Robert F., Hale, Daniel E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3947160/
https://ncbi.nlm.nih.gov/pubmed/24092497
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-013-1364-6
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