Huriez syndrome caused by a large deletion that abrogates the skin‐specific isoform of SMARCAD1 von Loh, A.Y.T., Ho, C.M., Muthiah, S., Venkatesh, B., Zwolinski, S., Bray, A.P.J.J., Reversade, B., Rajan, N., Carney, T.J.

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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy von Wong, HH, Seet, SH, Maier, M, Gurel, A, Traspas, RM, Lee, C, Zhang, S, Talim, B, Loh, AYT, Chia, CY, Teoh, TS, Sng, D, Rensvold, J, Unal, S, Shishkova, E, Cepni, E, Nathan, FM, Sirota, FL, Liang, C, Yarali, N, Simsek-Kiper, PO, Mitani, T, Ceylaner, S, Arman-Bilir, O, Mbarek, H, Gumruk, F, Efthymiou, S, Cimen, DU, Georgiadou, D, Sotiropoulou, K, Houlden, H, Paul, F, Pehlivan, D, Laine, C, Chai, G, Ali, NA, Choo, SC, Keng, SS, Boisson, B, Yilmaz, E, Xue, S, Coon, JJ, Ly, TTN, Gilani, N, Hasbini, D, Kayserili, H, Zaki, MS, Isfort, RJ, Ordonez, N, Tripolszki, K, Bauer, P, Rezaei, N, Seyedpour, S, Khotaei, GT, Bascom, CC, Maroofian, R, Chaabouni, M, Alsubhi, A, Eyaid, W, Isikay, S, Gleeson, JG, Lupski, JR, Casanova, J-L, Pagliarini, DJ, Akarsu, NA, Maurer-Stroh, S, Cetinkaya, A, Bertoli-Avella, A, Mathuru, AS, Ho, L, Bard, FA, Reversade, B

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