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A de novo chromosome 9p duplication in a female child with short stature and developmental delay

Chromosome 9p duplication, also known as a partial trisomy 9p, is a rare chromosome abnormality due to a duplication of the partial short arm of chromosome 9. More than 200 cases are reported in the literature. Major clinical findings include short stature, developmental delay, intellectual disabili...

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書誌詳細
主要な著者: Tinatin Tkemaladze, Kakha Bregvadze, Nikoloz Papiashvili, Sopio Gagua, Elene Abzianidze
フォーマット: Artigo
言語:Inglês
出版事項: SAGE Publishing 2023-03-01
シリーズ:SAGE Open Medical Case Reports
オンライン・アクセス:https://doi.org/10.1177/2050313X231160883
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