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A New Case of an Extremely Rare 3p21.31 Interstitial Deletion

Interstitial 3p21.31 deletions have been very rarely reported. We describe a 7-year-old boy with global developmental delay, specific facial characteristics, hydronephrosis, and hypothyreosis with a de novo deletion of 3p21.31, encompassing 29 OMIM genes. Despite the wide use of microarrays, no simi...

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Publicat a:Mol Syndromol
Autors principals: Lovrecic, Luca, Bertok, Sara, Žerjav Tanšek, Mojca
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4906427/
https://ncbi.nlm.nih.gov/pubmed/27385966
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000445227
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