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Contiguous mutation syndrome in the era of high-throughput sequencing

We investigated two siblings, born to consanguineous parents, with neurological features reminiscent of adaptor protein complex 4 (AP4) deficiency, an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, severe intellectual...

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Detaylı Bibliyografya
Yayımlandı:Mol Genet Genomic Med
Asıl Yazarlar: Langouët, Maéva, Siquier-Pernet, Karine, Sanquer, Sylvia, Bole-Feysot, Christine, Nitschke, Patrick, Boddaert, Nathalie, Munnich, Arnold, Mancini, Grazia M S, Barouki, Robert, Amiel, Jeanne, Colleaux, Laurence
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BlackWell Publishing Ltd 2015
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4444163/
https://ncbi.nlm.nih.gov/pubmed/26029708
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.134
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