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Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20)

Copy number variations in subtelomeric regions of chromosomes 17 and 20 are associated with intellectual disability and various systemic manifestations. Microarray analysis allows identification of submicroscopic chromosomal abnormalities and is applicable to elucidate the etiology of cognitive impa...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Mol Syndromol
मुख्य लेखकों: Ürel-Demir, Gizem, Akgün-Doğan, Özlem, Oğuz, Sümeyra, Güleray-Lafcı, Naz, Şimşek-Kiper, Pelin Özlem, Eda Utine, Gülen, Alikaşifoğlu, Mehmet, Boduroğlu, Koray
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: S. Karger AG 2020
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC7109379/
https://ncbi.nlm.nih.gov/pubmed/32256300
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000505141
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