ArticleHuman mutation2026
Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing.
Shengfang Qin, Xueyan Wang, Jin Wang, Xiangyou Leng, Zhuo Zhang, Ximin Chen, Yan Yin
Abstract readCase Reports
In one paragraphArticle in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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1 · What the graph read from itWhat it found
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4 · The recordCorrections and comments
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5 · Who and what moneyAuthors and funding
7 authors.
Shengfang QinDepartment of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women's and Children's Hospital/The Affiliated Women's and Children's Hospital of Chengdu Medical College Chengdu Sichuan China.ORCID https://orcid.org/0000-0001-9391-890X Xueyan WangDepartment of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women's and Children's Hospital/The Affiliated Women's and Children's Hospital of Chengdu Medical College Chengdu Sichuan China.ORCID https://orcid.org/0000-0003-1277-9165 Jin WangDepartment of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women's and Children's Hospital/The Affiliated Women's and Children's Hospital of Chengdu Medical College Chengdu Sichuan China.ORCID https://orcid.org/0000-0003-4961-6618 Xiangyou LengDepartment of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women's and Children's Hospital/The Affiliated Women's and Children's Hospital of Chengdu Medical College Chengdu Sichuan China.ORCID https://orcid.org/0000-0001-7046-2233 Zhuo ZhangDepartment of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women's and Children's Hospital/The Affiliated Women's and Children's Hospital of Chengdu Medical College Chengdu Sichuan China.ORCID https://orcid.org/0000-0002-2095-8246 Ximin ChenDepartment of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women's and Children's Hospital/The Affiliated Women's and Children's Hospital of Chengdu Medical College Chengdu Sichuan China.
Yan YinDepartment of Medical Genetics and Prenatal Diagnosis Sichuan Provincial Women's and Children's Hospital/The Affiliated Women's and Children's Hospital of Chengdu Medical College Chengdu Sichuan China.ORCID https://orcid.org/0000-0001-9134-3559 Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
Duchenne/Becker muscular dystrophy (DMD/BMD) is caused by variants in the X-linked
Indexed as
Chromosome AberrationsDystrophinMuscular Dystrophy, DuchenneAdolescentChromosomes, Human, XExome SequencingFemaleGenetic TestingHumansMaleMutationPedigreeDMD protein, humanDystrophinbreakpointscomplex rearrangementDuchenne muscular dystrophyreproductive interventionstructural variant sequencing
Identifiers
PMID42820057
PMCPMC13625829
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