| 概要 |
Macrocephaly, acquired, with impaired intellectual development (MACID) is a novel syndrome characterized by intellectual disability with macrocephaly, motor delay, hypotonia, behavioral abnormalities, and variable structural brain anomalies. Recently, haploinsufficiency of NFIB has been shown to cause this disease. NFIB is a NFI family member that play an important role in development of multiple organ systems including the brain.
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| 著者 |
Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attie-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D, Gerard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J, Reinstein E, Riviere JB, Santani AB, Schneider A, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ |
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| 著者 |
Marinella G, Conti E, Buchignani B, Sgherri G, Pasquariello R, Giordano F, Cristofani P, Battini R, Battaglia A |
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