Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis

Runs of homozygosity (ROH) in the human genome may be clinically relevant. The aim of this study was to report the frequency of increased ROH of the autosomal genome in individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies, and to compare these data w...

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Detalles Bibliográficos
Autores principales: Correia-Costa, Gabriela Roldão, Sgardioli, Ilária Cristina, dos Santos, Ana Paula, de Araujo, Tânia Kawasaki, Secolin, Rodrigo, Lopes-Cendes, Iscia, Gil-da-Silva-Lopes, Vera Lúcia, Vieira, Társis Paiva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2022
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8892458/
https://www.ncbi.nlm.nih.gov/pubmed/35238326
http://dx.doi.org/10.1590/1678-4685-GMB-2020-0480

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