| 概要 |
MIRAGE syndrome is a new form of syndromic adrenal hypoplasia with multifaceted clinical features, including myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. Additional associated features are developmental retardation, dysmorphism, chronic lung disease, and central nervous system abnormalities. It has been reported that MIRAGE syndrome is caused by gain-of-function mutations in the SAMD9 gene on the long arm of chromosome 7 (7q21.2). SAMD9 encodes sterile alpha motif domain-containing protein, which functions in endosome fusion and regulates cell growth.
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| 著者 |
Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S, Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Matsumoto N, Hasegawa T |
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| 著者 |
Onuma S, Wada T, Araki R, Wada K, Tanase-Nakao K, Narumi S, Fukui M, Shoji Y, Etani Y, Ida S, Kawai M |
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