KCNK4-related channelopathy causing a neurodevelopmental syndrome

Ria Garg,Joseph Sullivan,David Blair,Robert Wallerstein

BMJ case reports（2023）

引用 0|浏览7

暂无评分

摘要

Recent advances have revealed syndromic, autosomal dominant neurodevelopmental disorders associated with potassium (K+) channel-encoding gene variants. One such disorder is facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay and gingival overgrowth (FHEIG)

查看译文

关键词

Genetics, Genetic screening / counselling, Neurology

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要