The identification of a novel splicing mutation in the DMD gene of a Chinese family
Wanlu Liu, Xinwei Shi, Yuqi Li, Fuyuan Qiao, Yuanyuan Wu
Journal：Clinical Case Reports
IF：0
DOI：10.1002/ccr3.5166
PMID：34938549
Published：2021-12-09
research field：医学遗传学分子生物学
Abstract
The proband is a five-year-old boy diagnosed with Duchenne muscular dystrophy (DMD) by clinical manifestations and laboratory examination, but clinical phenotype of his parents is normal. In the study, his mother had a second pregnancy, and they went to obstetrics for genetic counseling to make informed reproductive choices.
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