Sep 2026· Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics· Vol 43 9, pp.
681-687
· 0 citations
Medicine
TL;DR
There is insufficient evidence to classify the FGF13 c.-32C>G as a pathogenic variant in clinical practice, and its presence should not be considered an indication for pregnancy termination due to major birth defects.
It is demonstrated that even in the absence of functional experiments, comprehensive family analysis can provide crucial clues for variant of uncertain significance (VUS) interpretation.
Xiu-Lan Hao, Yan-Chou Ye, Man Liu et al.· Frontiers in Genetics· 0 citations
Findings highlight the considerable clinical overlap between AHC and CAH, indicating that CNV analysis of the Xp21 region should be included in the diagnostic workup for male infants with suspected CAH but negative routine genetic testing.
Dong-Hua Zhang, Wen-Chun Li, Mei Li et al.· Frontiers in Endocrinology· 0 citations
The clinical utility of integrated high-throughput genomic analysis for molecular diagnosis and genetic counseling in a large Thai family affected by Wilson disease was demonstrated and the value of integrated genomic analysis for molecular diagnosis, cascade testing, and reproductive risk counseling was highlighted.
Above finding has enriched the mutation spectrum of the SALL1 gene in association with Townes-Brocks syndrome, which also represented a rare case of anal atresia in triplets, and provided a basis for molecular diagnosis, genetic counseling, and further research.
Yun-Qian Chi, Fu-Yun Sun, Zi-Han Zhang et al.· Zhonghua yi xue yi chuan xue...· 0 citations
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