Associated Papers
Metabolic, fibrotic and splicing pathways are all altered in Emery-Dreifuss muscular dystrophy spectrum patients to differing degrees.
de Las Heras JI et al.
Human Molecular Genetics, 2023
Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.
Xue Y et al.
Circulation. Cardiovascular Genetics, 2016
A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology.
Pen AE et al.
European Journal of Medical Genetics, 2015
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