Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing

Apparently, balanced chromosomal rearrangements usually have no phenotypic consequences for the carrier. However, in some cases, they may be associated with an abnormal phenotype. We report herein the case of a 4-year-old boy presenting with clinically isolated supravalvular aortic stenosis (SVAS)....

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Bibliografische gegevens
Gepubliceerd in:Mol Syndromol
Hoofdauteurs: Pons, Linda, Bouvagnet, Patrice, Bakloul, Mohamed, Di Filippo, Sylvie, Buisson, Adrien, Chatron, Nicolas, Labalme, Audrey, Metton, Olivier, Mitchell, Julia, Diguet, Flavie, Rollat-Farnier, Pierre-Antoine, Sanlaville, Damien, Schluth-Bolard, Caroline
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: S. Karger AG 2019
Onderwerpen:
Short Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6738261/
https://ncbi.nlm.nih.gov/pubmed/31602193
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000500215
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