Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Hui-qiang Cai"'
Publikováno v:
Journal of Neurorestoratology, Vol 10, Iss 2, Pp 100003-100003 (2022)
We present the case of a novel homozygous nonsense (c.4846C > T [p.R1616X]) mutation in the VPS13B in a Chinese boy with the primary symptoms of Cohen syndrome. This case presented with manifestations consistent with Cohen syndrome, including develop
Externí odkaz:
https://doaj.org/article/9e37f878b0034cde9bd90428f1991b48
