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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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Vydáno v:Clin Case Rep
Hlavní autoři: de Sousa, Paula, Kennedy, Alasdair, Lalani, Heva H. S.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2018
Témata:
On-line přístup: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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