Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Keyphrases

• Gain-of-function mutation 100%
• GDF11 100%
• Craniofacial Abnormalities 16%
• Zebrafish 16%
• Drosophilidae 8%
• Overexpression 8%
• Loss Function 8%
• Proband 8%
• Human Disease 8%
• Craniofacial 8%
• Signaling Molecules 8%
• Connective Tissue Disease 8%
• Frameshift 8%
• Human Development 8%
• Neuronal Loss 8%
• Missense Variants 8%
• Organ System 8%
• Nonsense 8%
• Phenotypic Spectrum 8%
• Patient Phenotype 8%
• Partial Loss 8%
• Neuronal Development 8%
• Missense 8%
• Vertebral Abnormalities 8%
• Nonsense Variant 8%
• Human Segmentation 8%
• Segmentation Defect 8%
• Abnormality Segmentation 8%

Biochemistry, Genetics and Molecular Biology

• Factor XI 100%
• Growth Differentiation Factor 100%
• Allele 22%
• Missense 22%
• Zebra Fish 22%
• Proband 11%
• Signaling Protein 11%
• Diptera 11%
• Human Development 11%