Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy

Congenital heart defects (CHD) occur in 40% of patients with trisomy 21, while the other 60% have a structurally normal heart. This suggests that the increased dosage of genes on chromosome 21 is a risk factor for abnormal heart development. Interaction of genes on chromosome 21 or their gene produc...

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Detalles Bibliográficos
Autores principales: Chaiyasap, Pongsathorn, Kulawonganunchai, Supasak, Srichomthong, Chalurmpon, Tongsima, Sissades, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4064986/
https://www.ncbi.nlm.nih.gov/pubmed/24950249
http://dx.doi.org/10.1371/journal.pone.0100191

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4064986/
https://www.ncbi.nlm.nih.gov/pubmed/24950249
http://dx.doi.org/10.1371/journal.pone.0100191

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