Hennekam syndrome 3 is an autosomal recessive disorder characterized by lymphedema with lymphangiectasia, facial dysmorphism and protein-losing enteropathy. It is caused by mutations of the ADAMTS3 gene.
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| 1. |
Brouillard P et al. (2017) Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.
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| 2. |
OMIM.ORG article Omim 618154
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