Browsing Research Articles (Dermatology) by Subject "Ablepharon macrostomia syndrome (AMS)"

Browsing Research Articles (Dermatology) by Subject "Ablepharon macrostomia syndrome (AMS)"

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  • Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes 
    Jacyk, Witold Kamil; Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico; Van Haaften, Gijs; Brancati, Francesco; Hoischen, Alexander; Huang, Haigen; Valkanas, Elise; Pusey, Barbara; Schanze, Denny; Zerfas, Patricia M.; Zambruno, Giovanna; Kariminejad, Ariana; Sabbagh-Kermani, Farahnaz; Lee, Janice; Tsokos, Maria G.; Lee, Chyi-Chia R.; Ferraz, Victor; Da Silva, Eduarda Morgana; Stevens, Cathy A.; Roche, Nathalie; Bartsch, Oliver; Farndon, Peter; Bermejo-Sanchez, Eva; Brooks, Brian P.; Maduro, Valerie; Dallapiccola, Bruno; Ramos, Feliciano J.; Chung, Hon-Yin Brian; Le Caignec, Cedric; Martins, Fabiana; Mazzanti, Laura; Brunner, Han G.; Bakkers, Jeroen; Lin, Shuo; Malicdan, May Christine V.; Boerkoel, Cornelius F.; Gahl, William A.; De Vries, Bert B.A.; Van Haelst, Mieke M.; Zenker, Martin; Markello, Thomas C.; Venselaar, Hanka (Cell Press, 2015-07)
    Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive ...