Literature DB >> 33609422

Further delineation of SMG9-related heart and brain malformation syndrome.

Norah Altuwaijri1, Mona Abdelbaky2, Amal Alhashem2,3, Maha Alrakaf4, Mais Hashem1, Fatema Alzahrani1, Fowzan S Alkuraya1,2,3.   

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Year:  2021        PMID： 33609422     DOI： 10.1002/ajmg.a.62139

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  1 in total

1.  Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing.

Authors:  Qi Yang; Zailong Qin; Qinle Zhang; Shang Yi; Sheng Yi; Jingsi Luo
Journal:  BMC Med Genomics       Date:  2022-03-23       Impact factor: 3.063
  1 in total

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