CHD7 mutation in a prenatal case of CHARGE syndrome
收藏NIAID Data Ecosystem2026-05-10 收录
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https://www.ncbi.nlm.nih.gov/sra/ERP180286
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资源简介：
Fetal exome sequencing was performed on a fetus with a variety of ultrasound and MRI findings and it revealed the presence of the novel c.2836-3C>G splicing mutation in CHD7 (Likely Pathogenic). CHARGE syndrome was the diagnosis.
创建时间：
2026-01-20
