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Differential genetic analysis of ectrodactyly in a Fanconi anemia pedigree with FANCA mutations
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Jian-hui Zhang, Zi-yan Xu, Hong-ping Yu, Ruo-li Wang, Juan Zhu, Zhen-bo Geng, Li Chen, Dan-dan Ruan, Fang-meng Huang, Mei-zhu Gao, Yun-fei Li, Xi-kui Zhang, Li Zhang, Zhu-ting Fang, Li-sheng Liao, Xiao-ling Zheng, Bin Hu & Jie-wei Luo
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Feb 14, 2026
A Chinese family study found two separate genetic conditions: Fanconi anemia caused by biallelic FANCA mutations and ectrodactyly linked to a novel EHMT1 splice variant. The EHMT1 finding expands the known features of EHMT1-related disorders and shows why broad genetic testing is important for complex family diagnoses.
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