Associated Papers
Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing.
Yang Q et al.
Bmc Medical Genomics, 2022
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.
Abdel-Salam GMH et al.
American Journal of Medical Genetics. Part A, 2022
Further delineation of SMG9-related heart and brain malformation syndrome.
Altuwaijri N et al.
American Journal of Medical Genetics. Part A, 2021
Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.
Lecoquierre F et al.
American Journal of Medical Genetics. Part A, 2019
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