De Lange Syndrome

Displaying 1 - 2 of 2CSV
Uwibambe, E., Yalcouyé, A., Aboagye, E. T., Xhakaza, L., Popel, K., Dukuze, N., Bharadwaj, T., de Kock, C., Schrauwen, I., Leal, S. M., Mutesa, L., & Wonkam, A. (2025). Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda. BMC Medical Genomics, 18(1). https://doi.org/10.1186/s12920-025-02153-0
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Kaur, M., Blair, J., Devkota, B., Fortunato, S., Clark, D., Lawrence, A., Kim, J., Do, W., Semeo, B., Katz, O., Mehta, D., Yamamoto, N., Schindler, E., Al Rawi, Z., Wallace, N., Wilde, J. J., McCallum, J., Liu, J., Xu, D., … Krantz, I. D. (2023). Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms. American Journal of Medical Genetics Part A, 191(8), 2113–2131. Portico. https://doi.org/10.1002/ajmg.a.63247
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