- Tytuł:
-
Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient. - Autorzy:
- Źródło:
- Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Oct; Vol. 9 (10), pp. e1779. Date of Electronic Publication: 2021 Aug 18.
- Typ publikacji:
- Case Reports; Journal Article; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Chromosomes, Human, Pair 1*
Paternal Inheritance*
Uniparental Disomy*
Glycogen Storage Disease Type III/*complications
Glycogen Storage Disease Type III/*diagnosisUsher Syndromes /*complicationsUsher Syndromes /*diagnosis
Adult ; Biomarkers ; Child, Preschool ; DNA Copy Number Variations ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Glycogen Debranching Enzyme System/chemistry ; Glycogen Debranching Enzyme System/genetics ; Glycogen Storage Disease Type III/etiology ; Glycogen Storage Disease Type III/metabolism ; Humans ; Male ; Middle Aged ; Models, Molecular ; Pedigree ; Sequence Analysis, DNA ; Structure-Activity Relationship ;Usher Syndromes /etiology ;Usher Syndromes /metabolism ; Exome Sequencing - SCR Disease Name:
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Usher syndrome, type 2A
Czasopismo naukowe