Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association

Exome sequencing offers an efficient and affordable method to interrogate genetic factors involved in human disease. Performing exome sequencing of monozygotic twins discordant for VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Lim...

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Main Authors: Solomon, B.D., Pineda-Alvarez, D.E., Hadley, D.W., Hansen, N.F., Kamat, A., Donovan, F.X., Chandrasekharappa, S.C., Hong, S.-K., Roessler, E., Mullikin, J.C.
Format: Artigo
Sprog:Inglês
Udgivet: S. Karger AG 2013
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Paper
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3638780/
https://ncbi.nlm.nih.gov/pubmed/23653574
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000345406
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