Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience

OBJECTIVE: The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an unequivocal diagnosis is important to understand the physiopathology of the dis...

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Библиографические подробности
Опубликовано в: :Clinics (Sao Paulo)
Главные авторы: Zanardo, Évelin Aline, Dutra, Roberta Lelis, Piazzon, Flavia Balbo, Dias, Alexandre Torchio, Novo-Filho, Gil Monteiro, Nascimento, Amom Mendes, Montenegro, Marília Moreira, Damasceno, Jullian Gabriel, Madia, Fabrícia Andreia Rosa, da Costa, Thaís Virgínia Moura Machado, Melaragno, Maria Isabel, Kim, Chong Ae, Kulikowski, Leslie Domenici
Формат: Artigo
Язык:Inglês
Опубликовано: Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo 2017
Предметы:
Clinical Science
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5629705/
https://ncbi.nlm.nih.gov/pubmed/29069255
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6061/clinics/2017(09)02
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