Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro‐Caribbean family

BACKGROUND: Cornelia de Lange syndrome (CdLS) comprises a recognizable pattern of multiple congenital anomalies caused by variants of the DNA cohesion complex. Affected individuals may display a wide range of phenotypic severity, even within the same family. METHODS: Exome sequencing and confirmator...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Mol Genet Genomic Med
Main Authors: Thompson, Wayne, Carey, Patrick Z., Donald, Tyhiesia, Nelson, Beverly, Bhoj, Elizabeth J., Li, Dong, Hakonarson, Hakon, Ramirez, Maricela, Elsea, Sarah H., Smith, Janice L., Carey, John C., Sobering, Andrew K.
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2020
Teme:
Clinical Reports
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7434751/
https://ncbi.nlm.nih.gov/pubmed/32511891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1318
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