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
Further delineation of SMG9-related heart and brain malformation syndrome.
Altuwaijri N et al.
American Journal of Medical Genetics. Part A, 2021
SMG9-deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder.
Lemire G et al.
American Journal of Medical Genetics. Part A, 2020
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