Title: | Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report |
Journal : | Neurology. Genetics, 9, 2 |
Authors: | Folland C ; Ganesh V ; Weisburd B ; McLean C ; Kornberg AJ ; O'Donnell-Luria A ; Rehm HL ; Stevanovski I ; Chintalaphani SR ; Kennedy P ; Deveson IW ; Ravenscroft G |
Material Type: | Article |
Publisher: | United States, 14/03/2023 |
Size: | p e200064 |
Languages: | English |
Keywords : | case studies ; diagnosis ; Duchenne muscular dystrophy ; DYS gene ; genetic diagnosis ; genotype-phenotype correlation ; intellectual developmental disorder ; repeated sequences |
Lien associé : | Texte complet disponible sur PubMed Central® (PMC) |
Pubmed / DOI : | Pubmed : 37090938 / DOI : 10.1212/NXG.0000000000200064 |
N° Profil MNM : | 2023051 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/37090938 |