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Dr. Ingrid Bader

Tübingen / DE

Universitätsklinikum Tübingen

Speaker

22/03/2023
Poster
P 69
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
Diagnostische Verfahren, Pathophysiologie und molekulare Mechanismen

Further involvements

22/03/2023
Poster
P 69
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
Diagnostische Verfahren, Pathophysiologie und molekulare Mechanismen