학술논문

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy
Document Type
Article
Source
In: Orphanet Journal of Rare Diseases. (Orphanet Journal of Rare Diseases, December 2022, 17(1))
Subject
Language
English
ISSN
17501172