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Neuser S, Brechmann B, Heimer G, et al. Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum Mutat. 2021;42(6):762-776doi: 10.1002/humu.24206.
Neuser, S., Brechmann, B., Heimer, G., Brösse, I., Schubert, S., O'Grady, L., Zech, M., Srivastava, S., Sweetser, D. A., Dincer, Y., Mall, V., Winkelmann, J., Behrends, C., Darras, B. T., Graham, R. J., Jayakar, P., Byrne, B., Bar-Aluma, B. E., Haberman, Y., Szeinberg, A., Aldhalaan, H. M., Hashem, M., Al Tenaiji, A., Ismayl, O., Al Nuaimi, A. E., Maher, K., Ibrahim, S., Khan, F., Houlden, H., Ramakumaran, V. S., Pagnamenta, A. T., Posey, J. E., Lupski, J. R., Tan, W. H., ElGhazali, G., Herman, I., Muñoz, T., Repetto, G. M., Seitz, A., Krumbiegel, M., Poli, M. C., Kini, U., Efthymiou, S., Meiler, J., Maroofian, R., Alkuraya, F. S., Abou Jamra, R., Popp, B., Ben-Zeev, B., & Ebrahimi-Fakhari, D. (2021). Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Human mutation, 42(6), 762-776. https://doi.org/10.1002/humu.24206
Neuser, Sonja, et al. "Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability." Human mutation vol. 42,6 (2021): 762-776. doi: https://doi.org/10.1002/humu.24206
Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D. Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum Mutat. 2021 Jun;42(6):762-776. doi: 10.1002/humu.24206. Epub 2021 May 11. PMID: 33847017.
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