Associated Papers
Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.
Chacon-Camacho OF et al.
European Journal of Medical Genetics, 2017
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Beck TF et al.
Human Molecular Genetics, 2013
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