Article

Functionally Confirmed Compound Heterozygous ADAM17 Missense Loss-of-function Variants Cause Neonatal Inflammatory Skin and Bowel Disease 1

2021-02-17

Abstract excerpt

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 reported to be linked to neonatal inflammatory skin and bowel disease 1 (NISBD1). Here we report for the first time, a family with NISBD1 caused by functionally confirmed co...

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Literature Corpus work: 350ec58b-6b56-54c8-80d5-d0d8a2fde8c9
DOI: 10.21203/rs.3.rs-206853/v1

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