Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

Autor: Mala Isrie, K Doonanco, Stéphanie Moortgat, Andi H. Hansen, Valeria Marton, Norma Leonard, Erica E. Davis, Faten Tinsa, Jasmin Morandell, Ender Karaca, Nicholas Katsanis, Hilde Van Esch, Elena Porta Dapena, Alejandro Sifrim, Francesca Cristofoli, David A. Keays, Zachari A. Kupchinsky, Nicholas J. Cowan, Joris Vermeesch, Martin W. Breuss, Celia Maria Rodriguez-Rodriguez, Erkan Koparir, Guoling Tian, Hakan Ulucan

Publikováno v: American journal of human genetics, 97(6), 790-800. Cell Press
Isrie, M, Breuss, M, Tian, G, Hansen, A H, Cristofoli, F, Morandell, J, Kupchinsky, Z A, Sifrim, A, Rodriguez-Rodriguez, C M, Dapena, E P, Doonanco, K, Leonard, N, Tinsa, F, Moortgat, S, Ulucan, H, Koparir, E, Karaca, E, Katsanis, N, Marton, V, Vermeesch, J R, Davis, E E, Cowan, N J, Keays, D A & Van Esch, H 2015, ' Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type ', American journal of human genetics, vol. 97, no. 6, pp. 790-800 . https://doi.org/10.1016/j.ajhg.2015.10.014

Circumferential skin creases Kunze type (CSC-KT) is a specific congenital entity with an unknown genetic cause. The disease phenotype comprises characteristic circumferential skin creases accompanied by intellectual disability, a cleft palate, short

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https://research.vumc.nl/en/publications/49610c3c-b8df-42c7-9a8f-0fa39eeefd81