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Updated: May 8, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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在成年人中出现IQCB1/NPHP5突变的Senior-Løken综合征:一个病例报告

İrem Demirtas1, Sibel Gökcay Bek2

  • 1Department of Internal Medicine, Faculty of Medicine Hospital, Kocaeli University, Kocaeli, Türkiye.

Journal of medical case reports
|November 29, 2025
PubMed
概括

高级洛肯综合征是一种罕见的纤毛病,可在患有IQCB1/NPHP5突变的成年人中出现. 早期诊断慢性病至关重要,以防止进展到末期病.

关键词:
慢性脏疾病 慢性脏疾病视网膜缩症 视网膜缩症 视网膜缩症先生 洛肯综合征

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Huntington Disease l: Introduction01:21

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...