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From karyotypes to precision genomics in 9p deletion and duplication syndromes

While 9p deletion and duplication syndromes have been studied for several years, small sample sizes and minimal high-resolution data have limited a comprehensive delineation of genotypic and phenotypic characteristics. In this study, we examined genetic data from 719 individuals in the worldwide 9p...

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Principais autores: Eleanor I. Sams, Jeffrey K. Ng, Victoria Tate, Ying-Chen Claire Hou, Yang Cao, Lucinda Antonacci-Fulton, Khadija Belhassan, Julie Neidich, Robi D. Mitra, F. Sessions Cole, Patricia Dickson, Jeffrey Milbrandt, Tychele N. Turner
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2022-01-01
coleção:HGG Advances
Assuntos:
syndrome
9p
CNV
deletion
duplication
developmental
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S2666247721000622
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