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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Bibliografski detalji
Izdano u:Mol Syndromol
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: S. Karger AG 2019
Teme:
Short Report
Online pristup: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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