Functionally confirmed compound heterozygous ADAM17 missense loss-of-function variants cause neonatal inflammatory skin and bowel disease 1
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K. Horiuchi | K. Masuda | I. Imoto | S. Higashiyama | S. Kagami | Y. Hayabuchi | T. Kohmoto | K. Suga | Yukako Homma | Ryuji Nakagawa | Mayumi Sugimoto | M. Saito | M. Otsu | H. Nakayama | Ayumi Sasaki | M. Shono | S. Tange | Tomohiro Kohmoto | Miki Shono | Kiyoshi Masuda