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Further phenotypic expansion of 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome

We report a 10-year-old Caucasian male identified with copy number variation detected by microarray analysis including a maternally inherited 15q11.2 microdeletion involving 4 genes, paternally inherited 13q12.2 microdeletion with 10 genes, and a de novo 2q14.3 duplication involving four genes. He h...

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Autors principals: Jerkovich, Adria M., Butler, Merlin G.
Format: Artigo
Idioma:Inglês
Publicat: Georg Thieme Verlag KG 2014
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4190059/
https://ncbi.nlm.nih.gov/pubmed/25309804
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-14082
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