Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy.
FSHD1
FSHD2
OGM
facioscapulohumeral muscular dystrophy
optical genome mapping
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
30 Nov 2023
30 Nov 2023
Historique:
received:
18
10
2023
revised:
24
11
2023
accepted:
27
11
2023
medline:
23
12
2023
pubmed:
23
12
2023
entrez:
23
12
2023
Statut:
epublish
Résumé
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common hereditary muscular dystrophy, caused by the contraction of the D4Z4 repeats on the permissive 4qA haplotype on chromosome 4, resulting in the faulty expression of the
Identifiants
pubmed: 38136988
pii: genes14122166
doi: 10.3390/genes14122166
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Slovenian Research Agency
ID : P3-0326
Organisme : University Medical Centre Ljubljana (UMCL)
ID : 20210031