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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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2019
Assuntos:
Short Report
Acesso em linha: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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