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De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders

Pleiotropy and variable expressivity have been cited to explain the seemingly distinct neurodevelopmental disorders due to a common genetic etiology within the same family. Here we present a family with a de novo 1-Mb duplication involving 18 genes on Chromosome 19. Within the family there are multi...

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Detalles Bibliográficos
Autores principales:	Sjaarda, Calvin P., Kaiser, Beatrice, McNaughton, Amy J.M., Hudson, Melissa L., Harris-Lowe, Liam, Lou, Kyle, Guerin, Andrea, Ayub, Muhammad, Liu, Xudong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2020
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304355/ https://www.ncbi.nlm.nih.gov/pubmed/32321736 http://dx.doi.org/10.1101/mcs.a004721

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