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1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis

Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000–10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial d...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Korean J Pediatr
Prif Awduron: Kang, Dong Soo, Shin, Eunsim, Yu, Jeesuk
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The Korean Pediatric Society 2016
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5177698/
https://ncbi.nlm.nih.gov/pubmed/28018437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2016.59.11.S14
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