Skip to content
Log in
Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development
Case report

[Clinical and genetic analysis of a child with MRXS34 syndrome due to variant of NONO gene].

Yong Zhao Nuo Li Yu Han Nan Li Qiuli Liu Wen-jie Fu Guanjun Luo Yizhao Chen Nan-Miao Wang Y. Zhou Xu-guang Qian
Aug 2026 · Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · Vol 43 8, pp. 592-597 · 0 citations
Medicine

TL;DR

A literature review showed that, among 23 BVSYS patients reported between 2015 and 2025, the most common clinical manifestations were developmental delay/intellectual disability and characteristic facial features, followed by speech impairment and characteristic facial features, and cardiac anomalies.

DOI PubMed Semantic Scholar
View source

Similar papers

Case report Sep 2026

[Clinical characterization and genetic analysis of a patient with Fahr disease due to a homozygous variant of JAM2 gene].

The patient had developed unsteady gait 6 months before without clear cause, manifesting as a feeling of heaviness in the head and lightness in the feet, a sensation of walking on cotton wool when standing or walking, and the detection of the novel variant has enriched the mutational spectrum of the JAM2 gene.

Qian Ma, Wen-Jun Shao, Yi-Wei Wang et al. · 0 citations
Jul 2026

Clinical and Genetic Insights into Angelman Syndrome: A Retrospective Study of 26 Cases in Morocco

The findings support earlier recognition, comprehensive molecular diagnosis, and improved access to genetic services in resource-limited settings, as well as highlighting delayed diagnosis and limited access to molecular testing.

Amal Ouskri, Bouramtane Abdelhamid, Daha Belghiti Hanae et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.