| 概要 |
Aplasia cutis-enamel dysplasia syndrome (ACED) is a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies. It has been reported that mutations in FOSL2 cause this syndrome. FOSL2 encodes a subunit of the AP-1 complex, a ubiquitous complex involved in various cellular functions such as proliferation, apoptosis, differentiation, survival, and migration.
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| 著者 |
Cospain A, Rivera-Barahona A, Dumontet E, Gener B, Bailleul-Forestier I, Meyts I, Jouret G, Isidor B, Brewer C, Wuyts W, Moens L, Delafontaine S, Keung Lam WW, Van Den Bogaert K, Boogaerts A, Scalais E, Besnard T, Cogne B, Guissard C, Rollier P, Carre W, Bouvet R, Tarte K, Gomez-Carmona R, Lapunzina P, Odent S, Faoucher M, Dubourg C, Ruiz-Perez VL, Devriendt K, Pasquier L, Perez-Jurado LA |
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