Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome

Billon, Clarisse ; Piccoli, Giorgina Barbara ; de Sainte Agathe, Jean-Madeleine ; Stoeva, Radka ; Derive, Nicolas ; Heidet, Laurence ; Berrebi, Dominique ; Bruneval, Patrick ; Jeunemaitre, Xavier ; Hureaux, Marguerite

Molecular genetics and genomics : MGG, 2024-12, Vol.299 (1), p.44-44, Article 44 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

Texto completo disponível