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De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism

The duplication of the short arm of chromosome 7 as de novo is extremely rare. The phenotype spectrum varies depending on the region of duplication. We report a case of de novo duplication of chromosomal region 7p21.1p22.2 in a three-year-old male child with autism who presented to the Sultan Qaboos...

詳細記述

保存先:
書誌詳細
出版年:Sultan Qaboos Univ Med J
主要な著者: Udayakumar, Achandira M., Al-Mamari, Watfa, Al-Sayegh, Abeer, Al-Kindy, Adila
フォーマット: Artigo
言語:Inglês
出版事項: Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences 2015
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4554279/
https://ncbi.nlm.nih.gov/pubmed/26357560
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18295/squmj.2015.15.03.018
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