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De novo microdeletion on an inherited Robertsonian translocation chromosome: a cause for dysmorphism in the apparently balanced translocation carrier.

Robertsonian translocations are usually ascertained through abnormal children, making proposed phenotypic effects of apparently balanced translocations difficult to study in an unbiased way. From molecular genetic studies, though, some apparently balanced rearrangements are now known to be associate...

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Détails bibliographiques
Auteurs principaux: Bonthron, D T, Smith, S J, Fantes, J, Gosden, C M
Format: Artigo
Langue:Inglês
Publié: 1993
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682413/
https://ncbi.nlm.nih.gov/pubmed/8352273
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