- Tytuł:
- A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene.
- Autorzy:
- Źródło:
- Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Jul; Vol. 11 (7), pp. e2190. Date of Electronic Publication: 2023 Apr 25.
- Typ publikacji:
- Case Reports; Journal Article
- MeSH Terms:
-
Barth Syndrome*/genetics
Barth Syndrome*/pathology
Cardiomyopathies*/genetics
Heart Defects, Congenital*/genetics
Heart Failure*/genetics
Humans ; Transcription Factors/genetics
Czasopismo naukowe