| 概要 |
Fischer-Zirnsak progeroid syndrome (FZPS) is a novel developmental disorder characterized by intrauterine growth retardation, generalized lipodystrophy, and additional progeroid features. It has been reported that mutations in SUPT7L cause this syndrome. SUPT7L encodes a component of the transcriptional coactivator complex STAGA, a nuclear localized multiprotein complex playing a role in various intracellular pathways.
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| 著者 |
Kopp J, Koch LA, Lyubenova H, Kuchler O, Holtgrewe M, Ivanov A, Dubourg C, Launay E, Brachs S, Mundlos S, Ehmke N, Seelow D, Fradin M, Kornak U, Fischer-Zirnsak B |
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