five

imprinting disorders: Beckwith–Wiedemann, Silver–Russell, and Prader-Willi syndromes in Egyptian patients

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NIAID Data Ecosystem2026-05-02 收录
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https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE282080
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19 patients with syndromic ImpDis were 8 clinically diagnosed with Silver-Russell syndrome (SRS), 7 with Prader-Willi syndrome (PWS), and 4 with Beckwith-Wiedemann syndrome (BWS).array chromosomal microarray (CMA) was performed for 12 patients The aim of this study is to achieve proper diagnosis of ImpDis in Egyptian patients through clinical evaluation and genetic testing
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2025-03-17
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