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Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report

We report on the 10-year follow-up and clinical, cytogenetic, and molecular investigation of a girl admitted for evaluation because of speech delay, learning difficulties, aggressive behavior, and dysmorphic facial features that included high forehead, round face, epicanthic folds, low-set dysplasti...

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Detaylı Bibliyografya
Asıl Yazarlar: Odak, Ljubica, Barišić, Ingeborg, Morožin Pohovski, Leona, Riegel, Mariluce, Schinzel, Albert
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Croatian Medical Schools 2011
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3122958/
https://ncbi.nlm.nih.gov/pubmed/21674840
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3325/cmj.2011.52.415
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