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Macrocerebellum, Epilepsy, Intellectual Disability and Gut Malrotation in a Child with a 16q24.1-q24.2 Contiguous Gene Deletion

Macrocerebellum is an extremely rare condition characterized by enlargement of the cerebellum with conservation of the overall shape and cytoarchitecture. Here, we report a child with a distinctive constellation of clinical features including macrocerebellum, epilepsy, apparent intellectual disabili...

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Bibliografiske detaljer
Udgivet i:Am J Med Genet A
Main Authors: Seeley, Andrea H., Durham, Mark A., Micale, Mark A., Wesolowski, Jeffrey, Foerster, Bradley R., Martin, Donna M.
Format: Artigo
Sprog:Inglês
Udgivet: 2014
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4266592/
https://ncbi.nlm.nih.gov/pubmed/24719385
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36569
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