Year: 2026
Type: article
Study design: Case Report
Abstract: In certain clinical scenarios, a single diagnosis may be insufficient or even inadequate to fully explain complex or atypical phenotypes.Herein, we present three pediatric cases diagnosed with dual rare genetic disorders and analyze their medical histories and diagnostic trajectories.A total of nine gene mutations were detected, among which seven were novel, including c.[791T>C];[695G>A] in DNAH1, loss2(EXON:3-5) in SGCB, c.[1A>G] (reported);[1024A>G] (reported) in RARS2, c.[962-1G>T];[592A>T] in KIAA0586, and c.358C>T in IRF2BPL, c.2714C>T in KDM6A.
DOI: 10.62347/sgnv8490
Author: Hao-Wei Xu
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W7131793507
FWCI:
Cites:
Cited by:
Related to: