Functionally confirmed compound heterozygous ADAM17 missense loss-of-function variants cause neonatal inflammatory skin and bowel disease 1.
Imoto I, Saito M, Suga K, Kohmoto T, Otsu M, Horiuchi K, Nakayama H, Higashiyama S, Sugimoto M, Sasaki A, Homma Y, Shono M, Nakagawa R, Hayabuchi Y, Tange S, Kagami S, Masuda K.
Imoto I, et al. Among authors: sugimoto m.
Sci Rep. 2021 May 5;11(1):9552. doi: 10.1038/s41598-021-89063-0.
Sci Rep. 2021.
PMID: 33953303
Free PMC article.