Associated Papers
Biallelic variants in GLE1 with survival beyond neonatal period.
Yates TM et al.
Clinical Genetics, 2020
Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.
Cerino M et al.
Molecular Genetics & Genomic Medicine, 2020
The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.
Tan QK et al.
Cold Spring Harbor Molecular Case Studies, 2017
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.
Said E et al.
American Journal of Medical Genetics. Part A, 2017
Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.
Smith C et al.
Clinical Genetics, 2017
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