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...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Principais autores: Ürel-Demir, Gizem, Akgün-Doğan, Özlem, Oğuz, Sümeyra, Güleray-Lafcı, Naz, Şimşek-Kiper, Pelin Özlem, Eda Utine, Gülen, Alikaşifoğlu, Mehmet, Boduroğlu, Koray
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2020
Assuntos:
Novel Insights from Clinical Practice
Acesso em linha: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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