Functionally confirmed compound heterozygous ADAM17 missense loss-of-function variants cause neonatal inflammatory skin and bowel disease 1
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DOI: 10.1038/s41598-021-89063-0
Abstract: A disintegrin and metalloprotease 17 (ADAM17) is the major sheddase that processes more than 80 substrates, including tumour necrosis factor-α (TNFα). The homozygous genetic deficiency of ADAM17 causing a complete loss of ADAM17 expression was… read more here.
Keywords: bowel disease; functionally confirmed; inflammatory skin; skin bowel ... See more keywords