| 概要 |
Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) is a severe infantile inflammatory bowel disease and central nervous system disease associated with epilepsy, brain atrophy and posterior leukoencephalopathy. It has been reported that loss-of-function mutations in the TGFB1 cause this disease.
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| 著者 |
Kotlarz D, Marquardt B, Baroy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Conca R, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Stromme P, Klein C |
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