Mutations in Pycr1 cause progeroid changes in skin and bone due to reduced mitochondrial stress resistance von Reversade, B, Escande-Beillard, N, Dimopoulou, A, Fischer, B, Li, Y, Kayserili, H, Al-Gazali, L, Brancati, F, Lee, H, O'Connor, B, Kornak, U, Schmidt-von Kegler, M, Merriman, B, Nelson, S.F, Masri, A, Guerra, D, nanda, A, Rajab, A, Grix, A, Sommer, A, Janecke, A.R, Steichen, E, Nürnberg, P, Seemann, P, Zambruno, G, Dallapiccola, B, Schuelke, M, Robertson, S, Hamamy, H, Wollnik, B, Van Maldergem, L, Mundlos, S

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177 VPS33B mutations cause ARKID syndrome affecting Rab protein interaction, collagen modification and epidermal structure von Gruber, R., Rogerson, C., Windpassinger, C., Strohal, R., Schmuth, M., Kroisel, P., Janecke, A.R., Gissen, P.

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A recognizable type of syndromic short stature with arthrogryposis caused by bi‐allelic SEMA3A loss‐of‐function variants von Baumann, M., Steichen‐Gersdorf, E., Krabichler, B., Müller, T., Janecke, A.R.

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Ocular manifestations of keratitis– ichthyosis–deafness (KID) syndrome von Messmer, E.M., Kenyon, K.R., Rittinger, O., Janecke, A.R., Kampik, A.

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Defining the Phenotype in Congenital Disorder of Glycosylation due to ALG1 Mutations von Morava, Eva, Vodopiutz, J, Lefeber, D.J, Janecke, A.R, Schmidt, W.M, Lechner, S, Item, C.B, Sykut-Cegielska, J, Adamowicz, M, Wierzba, J, Zhang, Z.H, Mihalek, I, Stockler, S, Bodamer, O.A, Lehle, L, Wevers, R.A

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Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14) von Minatogawa, M., Unzaki, A., Morisaki, H., Syx, D., Sonoda, T., Janecke, A.R., Slavotinek, A., Voermans, N.C., Lacassie, Y., Mendoza-Londono, R., Wierenga, K.J., Jayakar, P., Gahl, W.A., Tifft, C.J., Figuera, L.E., Hilhorst-Hofstee, Y., Maugeri, A., Ishikawa, K., Kobayashi, T., Aoki, Y., Ohura, T., Kawame, H., Kono, M., Mochida, K., Tokorodani, C., Kikkawa, K., Morisaki, T., Nakane, T., Kubo, A., Ranells, J.D., Migita, O., Sobey, G., Kaur, A., Ishikawa, M., Yamaguchi, T., Matsumoto, N., Malfait, F., Miyake, N., Kosho, T.

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