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A novel unbalanced translocation between the short arms of chromosomes 6 and 16 in a newborn girl: Clinical features and management

The reporting of previously undescribed genetic mutations and resulting clinical phenotypes guides management and enables a more accurate prognosis for clinicians treating newborns with similar features. Previous cases of 6p deletions and 16p duplications have been described as separate entities. Th...

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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: de Sousa, Paula, Kennedy, Alasdair, Lalani, Heva H. S.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6028415/
https://ncbi.nlm.nih.gov/pubmed/29988690
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1574
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