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pro vyhledávání: '"Shuyao Zhu"'
Autor:
Hui Zhu, Shuyao Zhu, Qiong Jiang, Ying Pang, Yu Huang, Yan Chen, Ting Hou, Wenxin Deng, Xingyu Liu, Lan Zeng, Ai Chen, Jin Wang, Zemin Luo
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Vulto-van Silfhout-de Vries syndrome (VSVS; MIM 615828) is an extremely rare autosomal dominant disorder with unknown incidence. It is always caused by de novo heterozygous pathogenic variants in the DEAF1 gene, which encodes deformed epidermal autor
Externí odkaz:
https://doaj.org/article/e92e9a891cf844a092b587c549eac628