| 概要 |
Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) is a novel autosomal recessive disease characterized by early-onset cerebropulmonary symptoms, malabsorption, growth failure, recurrent infections, hemolytic anemia, liver dysfunction, and lung fibrosis that leads to respiratory failure and death. It has been reported that mutations in NHLRC2 cause FINCA.
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| 著者 |
Brodsky NN, Boyarchuk O, Kovalchuk T, Hariyan T, Rice A, Ji W, Khokha M, Lakhani S, Lucas CL |
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| 著者 |
Uusimaa J, Kaarteenaho R, Paakkola T, Tuominen H, Karjalainen MK, Nadaf J, Varilo T, Uusi-Makela M, Suo-Palosaari M, Pietila I, Hiltunen AE, Ruddock L, Alanen H, Biterova E, Miinalainen I, Salminen A, Soininen R, Manninen A, Sormunen R, Kaakinen M, Vuolteenaho R, Herva R, Vieira P, Dunder T, Kokkonen H, Moilanen JS, Rantala H, Nogee LM, Majewski J, Ramet M, Hallman M, Hinttala R |
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