Background Cornelia de Lange syndrome (CdLS) currently has seven known causative genes, inherited in an autosomal or X‐linked dominant pattern. Clinical features are variable, including dysmorphic facial features, intrauterine and/or postnatal growth retardation, multiple organ system malformations, and neurodevelopmen...
Yan-Chuan Xie, Dong-Yan Li, Wen-Sheng Li et al.· Human Mutation· 0 citations
Dyslipidemia is predominant in chronic kidney disease (CKD) patients and is usually characterized by high levels of triglyceride (TG), decreased high-density lipoprotein cholesterol (HDL-C), and normal or slightly elevated low-density lipoprotein cholesterol (LDL-C). Nevertheless, the link between this distinct d...
Dan-Dan Li, Zi-Han Song, Xiao-Ci Wang et al.· BMC Endocrine Disorders· 0 citations
Current therapeutic evidence is concentrated primarily in MMUT- deficient isolated MMA, and further progress will require safer and more durable delivery platforms, improved tissue targeting, robust long-term safety assessment, clinically meaningful endpoints, and careful evaluation of accessibility and cost.
Yan-Qiu Wang, Huifang Peng, T. Jiang et al.· Orphanet Journal of Rare Dis...· 0 citations
This variant is the first reported, enriching the database and providing additional evidence to support genetic counselling and prenatal diagnosis, and is the first reported to lead to exon 2 skipping of GRIA3.
Lina Hu, Yuqiong Chai, Xiao-Fei Liu et al.· Frontiers in Genetics· 0 citations
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