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Vulto-van Silfhout-de Vries syndrome caused by de novo variants of DEAF1 gene: a case report and literature review

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 autoregulatory factor-1 homology. VSVS is characterized...

Celý popis

Uloženo v:
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2023-11-01
Edice:Frontiers in Neurology
Témata:
Vulto-van Silfhout-de Vries syndrome
dominant mental retardation-24
DEAF1
de novo
intellectual disability
behavioral abnormalities
On-line přístup:https://www.frontiersin.org/articles/10.3389/fneur.2023.1251467/full
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