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Morimoto M, Waller-Evans H, Ammous Z, et al. Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. Am J Hum Genet. 2018;103(5):794-807doi: 10.1016/j.ajhg.2018.09.014.
Morimoto, M., Waller-Evans, H., Ammous, Z., Song, X., Strauss, K. A., Pehlivan, D., Gonzaga-Jauregui, C., Puffenberger, E. G., Holst, C. R., Karaca, E., Brigatti, K. W., Maguire, E., Coban-Akdemir, Z. H., Amagata, A., Lau, C. C., Chepa-Lotrea, X., Macnamara, E., Tos, T., Isikay, S., Nehrebecky, M., Overton, J. D., Klein, M., Markello, T. C., Posey, J. E., Adams, D. R., Lloyd-Evans, E., Lupski, J. R., Gahl, W. A., & Malicdan, M. C. V. (2018). Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. American journal of human genetics, 103(5), 794-807. https://doi.org/10.1016/j.ajhg.2018.09.014
Morimoto, Marie, et al. "Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay." American journal of human genetics vol. 103,5 (2018): 794-807. doi: https://doi.org/10.1016/j.ajhg.2018.09.014
Morimoto M, Waller-Evans H, Ammous Z, Song X, Strauss KA, Pehlivan D, Gonzaga-Jauregui C, Puffenberger EG, Holst CR, Karaca E, Brigatti KW, Maguire E, Coban-Akdemir ZH, Amagata A, Lau CC, Chepa-Lotrea X, Macnamara E, Tos T, Isikay S, Nehrebecky M, Overton JD, Klein M, Markello TC, Posey JE, Adams DR, Lloyd-Evans E, Lupski JR, Gahl WA, Malicdan MCV. Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. Am J Hum Genet. 2018 Nov 01;103(5):794-807. doi: 10.1016/j.ajhg.2018.09.014. Epub 2018 Oct 25. PMID: 30401460; PMCID: PMC6218603.
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