Title: | From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene |
Journal : | Journal of personalized medicine, 12, 2 |
Authors: | Pyromali I ; Benslimane N ; Favreau F ; Goizet C ; Lazaro L ; Vitry M ; Derouault P ; Sturtz F ; Magdelaine C ; Lia AS |
Material Type: | Article |
Publication Date: | 03/02/2022 |
Size: | p 212 |
Languages: | English |
Keywords : | case studies ; Charcot-Marie-Tooth disease ; diagnosis ; genetic diagnosis ; SH3TC2 gene |
Keywords: | Charcot–Marie–Tooth;CovCopCan;NGS;SH3TC2;structural variation; |
Pubmed / DOI : | Pubmed : 35207700 / DOI : 10.3390/jpm12020212 |
N° Profil MNM : | 2022031 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/35207700 |