Homozygous <i>CHST11</i> mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.-论文-万方医学网

作者： Rana Muhammad Kamran,Shabbir ^[1] ; Gökhan,Nalbant ^[2] ; Nafees,Ahmad ^[3] ; Sajid,Malik ^[1] ; Aslıhan,Tolun ^[2]

作者单位： Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan. ^[1] Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey. ^[2] Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan. ^[3]

主题词成年人(Adult);动物(Animals);儿童, 学龄前(Child, Preschool);点状软骨发育异常(Chondrodysplasia Punctata);女(雌)性(Female);足(Foot);足畸形, 先天性(Foot Deformities, Congenital);生长面(Growth Plate);手(Hand);纯合子(Homozygote);人类(Humans);男(雄)性(Male);小鼠(Mice);中年人(Middle Aged);突变(Mutation);系谱(Pedigree);序列缺失(Sequence Deletion);磺基转移酶类(Sulfotransferases);并指(趾)(Syndactyly);青年人(Young Adult)

DOI 10.1136/jmedgenet-2017-105003

PMID 29514872

发布时间 2019-10-07

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Homozygous <i>CHST11</i> mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.

Journal of medical genetics

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Journal of medical genetics

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Homozygous <i>CHST11</i> mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.

Journal of medical genetics

相似文献

Journal of medical genetics

相关期刊

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